Genetic Directory & Services Guide

Transcription

1 Genetic Directory & Services Guide Personalised Genetic Health

2 Personalised Genetic Health Every pet is a truly unique individual Personalised Wellness Plans, Extensive range of DNA disease and trait tests, DNA Breed Identification ORIVET NATURAL PET CARE PRODUCTS - SUPPLEMENTS, GROOMING AND CLEANING Visit Personal Animal Genetics ORIVET GENETIC PET CARE Suite 102A / Inkerman Street, St Kilda 3182 Australia t f

3 Orivet Genetic Pet Care is a leading genetic testing organisation offering an extensive range of genetic services to breeders, Veterinarians and pet owners. Our partners include a long list of breeders, veterinary professionals and institutions both locally and internationally. We work closely with animal breeders giving them the most extensive range of affordable genetics tests and developing programs to assist their breeding programs. Orivet has developed internationally recognised protocols and our veterinary genetic assurance program is a uniformly recognised program incorporating a physical examination carried out by a Veterinarian. Orivet has built excellent relationships with many Associations and is their preferred laboratory promoting responsible breeding through our Full Breed Profiles genetic testing profiles specifically designed for members based on the breed requirements. Orivet introduces Personalised Breed Specific Medicine and Natural Pet Care Products for your pet. Our patented algorithm takes into account your pet s genetic breed, make up, age, sex and lifestyle to generate a personalised genetic program specific for each pet. Our testing platform allows for innovative, efficient, reliable and affordable testing. Our natural pet care line includes a range of organic supplements, grooming and cleaning products to suit the different needs of all dogs and cats. At Orivet, we believe that every pet is a truly unique individual. Personal Animal Genetics Contact Details ORIVET GENETIC PET CARE ORIVET INTERNATIONAL - USA ORIVET INTERNATIONAL - JAPAN Suite 102A / Inkerman Street St Kilda 3182 Australia 79 North Franklin Tpke, Suite 103, Ramsey, New Jersey United States of America 3-6-2, Kumata, Higashisumiyoshi-ku, Osakashi, Osaka Japan t f e info@orivet.com.au e admin@orivet.com m (Japan) e japan@orivet.com.au 3

4 CONTENTS Canine Disease List 5-9 Canine Traits List 10 Full Breed Profiles - Popular Breeds Overview: DNA Testing Programme Disease Mode of Inheritance 20 Disease Results 21 Breeding Strategies 22 Orivet Technology Canine Coat Colour Coat Colour Nomenclature with Explanations An Overview of the Canine Agouti (A) Locus Variable Coat Colour Alleles - Canine Multi Drug Sensitivity (Ivermectin) 36 ADVANCE DNA Breed Identification Test 37 Example of a Genetic Analysis Report Feline Disease Lists and Traits An Overview of Feline Diseases & Traits 42 Feline Genetic Diseases Feline Genetic Traits Feline Coat Colour Feline Genetic Coat Colour Pattern Feline LHG Results 59 Feline Blood Groups 60 Cat Blood Groups - Overview 61 Feline Hypertrophic Cardiomyopathy Molecular (DNA) Testing - Application Form 64 Frequently Asked Questions 65 SWAB Collection Instructions 66 VGA - Veterinary Physical Examination 67 4

5 Canine Disease List Disease Arrythmogenic Right Ventricular Cardiomyopathy Autosomal Hereditary Recessive Nephropathy (Familial Nephropathy) Canine Hyperuricosuria Canine Leukocyte Adhesion Deficiency Canine Multifocal Retinopathy Catalase Deficiency Centronuclear Myopathy Cerebella Ataxia Chondrodysplasia Cobalamin Malabsorption: Amnionless Deficiency Cobalamin Malabsorption: Cubilin Deficiency Collie Eye Anomaly/Choroidal Hypoplasia 1 Cone Degeneration (Achromatopsia) Congenital Hypothyroidism with Goiter Congenital Stationary Night Blindness Copper Toxicosis Cystinuria Breed(s) - Includes developmental breeds Boxer American Cocker Spaniel, Australian Cobberdog/Cobberdog, Cocker Spaniel, English Springer Spaniel, Labradoodle/Australian Labradoodle, Spoodle American Bulldog, American Staffordshire Terrier, Australian Bulldog, Australian Shepherd, Black Russian Terrier, British Bulldog, Dalmatian, French Bulldog, German Shepherd Dog, Giant Schnauzer, Jack Russell Terrier, Labradoodle/Australian Labradoodle, Labrador Retriever, Large Munsterlander, Miniature Australian Shepherd, Parson Russell Terrier, Pitbull, Pomeranian, Russell Terrier, South African Boerboel, Weimeraner Irish Setter, Red and White Setter American Bulldog, Australian Bulldog, Australian Shepherd, Bandog, British Bulldog, Bordeuax Mastiff, Bullmastiff, Cane Corso, Coton de Tulear, Dogue de Bordeaux, English Bulldog, English Mastiff, French Bulldog, Great Pyrenees, Lapponian Herder, Mastiff (Old English), Miniature Australian Shepherd, Perro de Presa Canario, South African Boerboel Beagle Australian Cobberdog/Cobberdog, Great Dane, Labradoodle/Australian Labradoodle, Labrador Retriever American Staffordshire Terrier, Bandog, Finnish Hound, Spinone Dachshund Australian Shepherd, Giant Schnauzer Beagle, Border Collie Australian Shepherd, Bearded Collie, Border Collie, Collie (Rough), Collie (Smooth), Hokkaido Dog, Lancashire Heeler, Long-haired Whippet, Miniature Australian Shepherd, Nova Scotia Duck Tolling Retriever, Rough Collie, Shetland Sheepdog, Silken Windwood, Smooth Collie, Whippet Alaskan Malamute, Australian Shepherd, German Shorthaired Pointer Rat Terrier, Spanish Water Dog, Tenterfield Terrier, Toy Fox Terrier Beagle, Briard Bedlington Terrier Australian Cattle Dog, Australian Cobberdog/Cobberdog, Koolie/Australian Koolie, Labradoodle/Australian Labradoodle, Labrador Retriever, Landseer, Miniature Pinscher, Newfoundland 1 Please note that these diseases are patented and therefore certain restrictions apply. 5

6 Canine Disease List Disease Degenerative Myelopathy Dilated Cardiomyopathy Dominant PRA Dry Eye Curly Coat Syndrome Dwarfism (Pituitary) Eliptocytosis B-spectrin Episodic Falling Syndrome Exercise Induced Collapse Factor VII Deficiency Fucosidosis Gangliosidosis (GM1 and HEX B) Generalised PRA (PRA1 & 2) Globoid Cell Leukodystrophy/ Krabbe s Disease Glycogen Storage Disease 1a Haemophilia A / Factor VIII Hereditary Ataxia Hereditary Cataract Hereditary Multifocal Renal Cystadenocarcinoma Breed(s) - Includes developmental breeds American Cocker Spaniel, American Eskimo Dog, Australian Bulldog, Australian Cobberdog/Cobberdog, Australian Shepherd, Belgian Lakenois, Belgian Malinois, Belgian Tervuren, Bernese Mountain Dog, Border Collie, Borzoi, Boxer, British Bulldog, Canaan Dog, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chinese Crested, Collie (Rough), Collie (Smooth), Curly Coat Retriever, Finnish Lapphund, French Bulldog, German Shepherd Dog, Golden Retriever, Goldendoodle, Great Pyrenees, Kerry Blue Terrier, Labradoodle/Australian Labradoodle, Labrador Retriever, Miniature Australian Shepherd, Nova Scotia Duck Tolling Retriever, Pembroke Welsh Corgi, Poodle (Dwarf), Poodle (Miniature), Poodle (Standard), Poodle (Toy), Portuguese Water Dog, Pug, Rhodesian Ridgeback, Rottweiler, Shetland Sheepdog, Soft Coated Wheaten Terrier, South African Boerboel, Spoodle, Staffordshire Bull Terrier, White Swiss Shepherd, Wire Fox Terrier, Various Breeds Dobermann/Dobermann Pinscher Bandog, Bullmastiff, English Mastiff, Mastiff (Old English) Cavalier King Charles Spaniel German Shepherd Dog Chow Chow, Labrador Retriever, Australian Cobberdog/Cobberdog, Labradoodle/ Australian Labradoodle Cavalier King Charles Spaniel American Cocker Spaniel, Australian Cobberdog/Cobberdog, Bouvier Des Flandres, Boykin Spaniel, Chesapeake Bay Retriever, Cocker Spaniel, Curly Coat Retriever, English Cocker Spaniel, German Wirehaired Pointer, Labradoodle/Australian Labradoodle, Labrador Retriever, Old English Sheepdog, Pembroke Welsh Corgi Alaskan Klee Kai, Beagle, Giant Schnauzer, Miniature Schnauzer, Scottish Deerhound English Springer Spaniel Poodle (Dwarf), Poodle (Toy), Portuguese Water Dog, Shiba Inu, Siberian Husky Golden Retriever, Goldendoodle Cairn Terrier, Coonhound, Dalmatian, Irish Setter, Miniature Poodle, Pomeranian, Spoodle, West Highland White Terrier Maltese Terrier German Shepherd Dog Gordon Setter, Old English Sheepdog Australian Shepherd, Boston Terrier, French Bulldog, Staffordshire Bull Terrier German Shepherd Dog 6

7 Canine Disease List Disease Breed(s) - Includes developmental breeds Hereditary Nasal Parakeratosis (Dry Nose) Labradoodle/Australian Labradoodle, Labrador Retriever, Australian Cobberdog/ Cobberdog Hereditary Nephropathy (Alport Syndrome) Samoyed Ivermectin Sensitivity MDR1 (Multi Drug Resistance) Australian Bulldog, Australian Cattle Dog, Australian Cobberdog/Cobberdog, Australian Shepherd, Black Russian Terrier, Border Collie, Collie (Rough), Collie (Smooth), English Shepherd, German Shepherd Dog, Koolie/Australian Koolie, Labradoodle/Australian Labradoodle, Long-haired Whippet, McNab Shepherd, Miniature Australian Shepherd, Old English Sheepdog, Shetland Sheepdog, Waller, Whippet (long haired), White Swiss Shepherd L2- Hydroxyglutaric Aciduria Staffordshire Bull Terrier, Yorkshire Terrier Late Onset PRA Basenji Malignant Hyperthermia (RYR1) Greyhound, Labradoodle, Labrador, Pointer Mucopolysaccharidosis Australian Cobberdog/Cobberdog, Goldendoodle, Labradoodle/Australian Labradoodle, Miniature Pinscher, Miniature Schnauzer, Poodle (Dwarf), Poodle (Miniature), Poodle (Toy), Schipperke Mullerian Duct Syndrome Miniature Schnauzer Muscular Dystrophy X-linked (MDX) Cavalier King Charles Spaniel, German Shorthaired Pointer, Golden Retriever, Goldendoodle, Japanese Spitz Musladin-Lueke Syndrome Beagle Myostatin Greyhound, Whippet Myotonia Congenita Miniature Schnauzer Myotonia Hereditaria CLCN1 Australian Cattle Dog Myotubular Myopathy X linked Australian Cobberdog/Cobberdog, Labradoodle/Australian Labradoodle, Labrador Retriever, Rottweiler Narcolepsy Australian Cobberdog/Cobberdog, Dachshund, Dobermann/Dobermann Pinscher, Labradoodle/Australian Labradoodle, Labrador Retriever Neonatal Ataxia Coton de Tulear Neonatal Cerebellar Cortical Degeneration Beagle Neonatal Encephalopathy Australian Cobberdog/Cobberdog, Cavalier King Charles Spaniel, Goldendoodle, Labradoodle/Australian Labradoodle, Poodle (Standard), Spoodle Neuronal Ceroid Lipofuscinosis American Bulldog, American Staffordshire Terrier, Australian Shepherd, Bandog, Border Collie, Dachshund, Dachshund Miniature Longhaired, Dachshund Miniature Smooth Hair, English Setter, Gordon Setter, Irish Setter, Tibetan Terrier Osteogenesis imperfecta (SERPINH1) Dachshund, Dachshund Miniature Longhaired, Dachshund Miniature Smooth Hair, Dachshund Miniature Wire Hair, Dachshund Standard Smooth Hair 7

8 Canine Disease List Disease Breed(s) - Includes developmental breeds Phosphofructokinase Deficiency American Cocker Spaniel, Australian Cobberdog/Cobberdog, Cocker Spaniel, English Cocker Spaniel, English Springer Spaniel, Labradoodle/Australian Labradoodle, Watchtelhund, Whippet Polyneuropathy/Neuropathy (NDRG1) (ARHGEF10) Alaskan Malamute, Greyhound, Leonberger, Saint Bernard Pompe Disease Finnish Lapphund, Lapponian Herder, Swedish Lapphund Prekallikrein Deficiency Shi Tzu Primary Ciliary Dyskinesia Old English Sheepdog, Old English Sheepdog, Shetland Sheepdog Primary Lens Luxation American Eskimo Dog, American Hairless (Rat) Terrier, Australian Cattle Dog, Border Collie, Chinese Crested, Jack Russell Terrier, Jagd Terrier, Kelpie, Koolie/ Australian Koolie, Lakeland Terrier, Lancashire Heeler, Miniature Bull Terrier, Parson Russell Terrier, Patterdale Terrier, Rat Terrier, Russell Terrier, Sealyham Terrier, Teddy Roosevelt Terrier, Tenterfield Terrier, Tibetan Terrier, Toy Fox Terrier, Volpino Italiano, Welsh Terrier Primary Open Angle Glaucoma Beagle Progressive Retinal Atrophy Papillon Progressive Retinal Atrophy - cord1 (crd-4) Australian Cobberdog/Cobberdog, Curly Coat Retriever, Dachshund, Dachshund Miniature Smooth Hair, Dachshund Miniature Wire Hair, English Springer Spaniel, French Bulldog, Labradoodle/Australian Labradoodle, Papillion, Pembroke Welsh Corgi, Phalene, Standard Smooth-Haired Dachshund, Standard Wire-Haired Dachshund, Spoodle Progressive Retinal Atrophy - erd Norwegian Elkhound Progressive Retinal Atrophy - rcd 3 Cardigan Welsh Corgi, Chinese Crested Progressive Retinal Atrophy - rcd4 Australian Cobberdog/Cobberdog, English Setter, Goldendoodle, Gordon Setter, Irish Setter, Labradoodle/Australian Labradoodle, Poodle (Standard) Progressive Retinal Atrophy -rcd1 Irish Setter, Red and White Setter Progressive Retinal Atrophy -rcd1a Sloughi Progressive Retinal Atrophy -Type A Miniature Schnauzer Progressive Rod Cone Degeneration-prcd-PRA 1 American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog, Australian Cobberdog/Cobberdog, Australian Shepherd, Australian Stumpy Tail Cattle Dog, Chesapeake Bay Retriever, Chinese Crested, Cocker Spaniel, English Cocker Spaniel, Entlebutcher, Finnish Lapphund, Giant Schnauzer, Golden Retriever, Goldendoodle, Hungarian Kuvasz, Karelian Bear Dog, Labradoodle/Australian Labradoodle, Labrador Retriever, Lapponian Herder, Markiesje, Miniature Australian Shepherd, Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck Tolling Retriever, Poodle (Dwarf), Poodle (Miniature), Poodle (Standard), Poodle (Toy), Portuguese Water Dog, Schipperke, Silky Terrier, Spanish Water Dog, Spoodle, Swedish Lapphund, Yorkshire Terrier 1 Please note that these diseases are patented/licensed and therefore certain restrictions apply. 8

9 Canine Disease List Disease Pyruvate Dehydrogenase Phosphatase Deficiency Pyruvate Kinase Deficiency Renal Cystadenocarcinoma and Nodular Dermatofibrosis Retinal Dysplasia/OSD (Skeletal Dysplasia COL11A2) Rod-cone dysplasia type 2 (rcd2) spink1-pancreatitis-c>g Spinocerebellar Ataxia Startle Disease Thrombopathia Trapped Neutrophil Syndrome von Willebrand s Disease Type I von Willebrand s Disease Type III XL -PRA 1 & 2 (ORF15) XL -PRA 1 & 2 (ORF15) Breed(s) - Includes developmental breeds Clumber Spaniel, Sussex Spaniel Australian Cobberdog/Cobberdog, Basenji, Beagle, Cairn Terrier, Labradoodle/ Australian Labradoodle, Labrador Retriever, Pug, West Highland White Terrier German Shepherd Dog Australian Cobberdog/Cobberdog, Labradoodle/Australian Labradoodle, Labrador Retriever, Samoyed Collie (Rough), Collie (Smooth) Miniature Schnauzer Jack Russell Terrier, Parson Russell Terrier Irish Wolfhound Basset Hound, Landseer, Spitz Border Collie Australian Cobberdog/Cobberdog, Bernese Mountain Dog, Cavalier King Charles Spaniel, Coton de Tulear, Drensche Partijshond, Dobermann/Dobermann Pinscher, German Pinscher, Golden Retriever, Goldendoodle, Kerry Blue Terrier, Labradoodle/ Australian Labradoodle, Manchester Terrier, Miniature Poodle, Papillion, Pembroke Welsh Corgi, Poodle (Dwarf), Poodle (Miniature), Poodle (Standard), Poodle (Toy), Red and White Setter, Stabyhound, Spoodle, West Highland White Terrier, White Swiss Shepherd Kooikerhondje, Scottish Terrier, Shetland Sheepdog Samoyed Siberian Husky 9

10 Canine Traits List Traits A Locus B Locus Black & Tan/Saddle Coat Black Hair Follicular Dysplasia Coat Colour Dilution Alopecia D Locus E Locus Em Locus Harlequin K Locus Long Hair Gene Natural Bob Tail Phenotype Agouti Gene (CBD103- Canine Beta Defensin 103) is responsible for fawn/sable (ay), tan points (at), recessive black (a) or wild type (aw). To express the A locus requires any combination of two k alleles and at least one of the E/Em Loci. The Liver Gene (TYRP1 Tyrosinase Related Protein) is currently 3 variants (bc, bd and bs) associated with the B Locus and recognised as a modifying gene not a dilution. The B Locus tests for the presence of brown, chocolate or liver (according to the breed). The B locus affects black pigment only. Liver also has an effect on eyes and nose (pigment) colour. Liver can be diluted by the D Locus causing the colour to be lilac/isabella. Part of the A Locus and associated with the saddle pattern and part of a modifier of the tan point (at) gene. The saddle can cause the black or at to highlight/show on the dog s back or face. Sometimes referred to as a creeping tan. Affects the follicles of black pigmented hair or dark hair leading to hair loss/alopecia. A rare disorder confined to the black coat affecting bi or tricolored or piebald dogs. Breeds Affected: Papillion, Saluki, Jack Russell, Bearded Collie and Large Munsterlander. Common in dogs with a blue or fawn dilute hair colour. This is always associated with the D Locus (MLPH). Most common and severe symptoms are seen in the Dobermann. The Dilution Gene (MLPH) tests for the presence of the dilute pigment which is often referred to as grey, blue, Isabella or pale brown. Controls the intensity of eumelanin and dilutes liver (brown) and black. Referred to as the Extension Locus ( MC1R). Tests for the presence of yellow, lemon, apricot, cream, orange, or red. Overides the A and K Loci. Tests whether a dog with a mask has one or two copies of the Extension Locus. The mask is seen over the A Locus pattern. A mask is seen over sable (ay), tan pointed (at), saddled or agouti dogs. Causes the grey background usually seen on a Merle to be diluted to white. Dominant so one H Loci leads to the effect, HH dogs are reabsorbed into the womb (lethal) Breed Affected: Great Dane. Referred to as the Dominant Black Gene. Tests for K (dominant black), Kbr (brindle) and k (recessive non-black). K (black) is dominant and one gene means a dog will be solid black. If a dog is kk it will express the A Locus. The Fibroblast Growth factor (FGF5) gene which is responsible for hair length. Will determine whether a dog carries this gene and therefore produce a long hair coat. Also referred to as Short Tail Phenotype and tests for the T-Box Mutation. It is an Autosomal Dominant mode of inheritance and therefore one copy will show the phenotype. Please note that the mutation in not seen in breeds born with a screw tail English Bulldog, Boston Terrier and French Bulldog. PLEASE NOTE Unless indicated, the above traits can be screened in a wide number of breeds and are included in any Full Breed Profile request. 10

11 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours Australian Bulldog Australian Labradoodle, Labradoodle & Australian Cobberdog Hyperuricosuria Canine Multifocal Retinopathy I Ivermectin Sensitivity MDR1 Degenerative Myelopathy Progressive Rod Cone Degeneration - PRA 1 Autosomal Hereditary Recessive Nephropathy/ Familial Nephropathy Globoid Cell Leukodystrophy/Krabbe s Disease Degenerative Myelopathy Centronuclear Myopathy Myotubular Myopathy 1 Ivermectin Sensitivity - MDR1 Hereditary Nasal Parakeratosis (Dry Nose) Elliptocytosis (B-spectrin) Hyperuricosuria Skeletal Dysplasia 2 Gangliosidosis (GM2) Narcolepsy Mucopolysaccharidosis Cystinuria Cone-Rod Dystrophy I - PRA Exercise Induced Collapse Mytotubular Myopathy X Linked Pyruvate Kinase Deficiency Phosphofructokinase Deficiency Neontal Encephalopathy von Willebrand s Disease Type I Malignant Hyperthermia (RYR1) 1 Please note that these diseases are patented/licensed and therefore certain restrictions apply. K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) Black Hair Follicular Dysplasia (BHFD) Black and Tan Saddle Coat Natural Bobtail (T-Box) K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) Black Hair Follicular Dysplasia (BHFD) Black and Tan Saddle Coat Long Hair Gene 11

12 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours Australian Shepherd Hyperuricosuria Canine Multifocal Retinopathy I Cobalamin Malabsorption Cublin Deficiency Collie Eye Anomaly/Choroidal Hyperplasia 1 Cone Degeneration Hereditary Cataract (Dominant) Ivermectin Sensitivity MDR1 Progressive Rod Cone Degeneration - PRA Degenerative Myelopathy K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) Black Hair Follicular Dysplasia (BHFD) Black and Tan Saddle Coat Natural Bobtail (T-Box) Beagle Boerboel/South African Boerboel Catalase Deficiency Cobalamin Malabsorption: Cubilin Deficiency Factor VII Deficiency Musladin-Leuke Syndrome Neonatal Cerebellar Cortical Degeneration Primary Open Angle Glaucoma Pyruvate Kinase Deficiency Congenital Stationary Night Blindness Canine Multifocal Retinopathy I Hyperuricosuria Degenerative Myelopathy A-Locus Agouti (ASIP) K-Locus (Dominant Black) Coat Colour Dilution Alopecia (CDA) E-Locus (Extension) EM-Locus Melanistic Mask/Grizzle K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) Black Hair Follicular Dysplasia (BHFD) Black and Tan Saddle Coat Natural Bobtail (T-Box) Long Hair Gene 1 Please note that these diseases are patented/licensed and therefore certain restrictions apply. 12

13 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours Border Collie Degenerative Myelopathy Cobalamin Malabsorption Cublin Deficiency Collie Eye Anomaly/Choroidal Hyperplasia 1 Ivermectin Sensitivity - MDR1 Neuronal Ceroid Lipofuscinosis Trapped Neutrophil Syndrome Primary Lens Luxation K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) Black Hair Follicular Dysplasia (BHFD) Black and Tan Saddle Coat Long Hair Gene British Bulldog Cavalier King Charles Spaniel Hyperuricosuria Canine Multifocal Retinopathy I Degenerative Myelopathy Degenerative Myelopathy Eposodic Falling Syndrome Dry Eye Curly Coat Syndrome Muscular Dystrophy X-linked (MDX) Collie (Rough + Smooth) Collie Eye Anomaly/Choroidal Hyperplasia 1 Ivermectin Sensitivity MDR1 Progressive Retinal Atrophy - rcd-2 Gray Collie Syndrome (Cyclic Neutropenia) Progressive Rod Cone Degeneration - PRA 1 K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) K-Locus (Dominant Black) EM-Locus Melanistic Mask/Grizzle E-Locus (Extension) Long Hair Gene 1 Please note that these diseases are patented/licensed and therefore certain restrictions apply. 13

14 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours Dachshund Chrondrodysplasia Progressive Retinal Atrophy - cord1 Neuronal Ceroid Lipofuscinosis Osteogenesis imperfecta (SERPINH1) Long Hair Gene K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia Dachshund Miniature Longhaired Dachshund Miniature Smooth Hair Dobermann French Bulldog Progressive Retinal Atrophy - cord1 Neuronal Ceroid Lipofuscinosis Osteogenesis imperfecta (SERPINH1) Progressive Retinal Atrophy - cord1 (crd4) Neuronal Ceroid Lipofuscinosis Osteogenesis imperfecta (SERPINH1) Dilated Cardiomyopathy Narcolepsy von Willebrand s Disease Type I Degenerative Myelopathy Canine Multifocal Retinopathy I Hereditary Cataract Cone-Rod Dystrophy I - PRA Canine Hyperuricosuria Long Hair Gene K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia Long Hair Gene K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia B (Brown) Locus - Chocolate/Liver K-Locus (Dominant Black) D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) 14

15 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours German Shepherd Dog Degenerative Myelopathy Hereditary Multifocal Renal Cystadenocarcinoma Ivermectin Sensitivity - MDR1 Renal Cystadenocarcinoma and Nodular Dermatofibrosis Canine Hyperuricosuria Haemophilia A / Factor VIII K-Locus (Dominant Black) EM-Locus Melanistic Mask/Grizzle D (Dilute) Locus B (Brown) Locus - Chocolate/Liver A-Locus Agouti (ASIP) Coat Colour Dilution Alopecia (CDA) E-Locus (Extension) Long Hair Gene Spotting Locus (W Gene) Goldendoodle Labrador Retriever Degenerative Myelopathy Generalised PRA 1 and 2 Muscular Dystrophy X-linked (MDX) Neontal Encephalopathy von Willebrand s Disease Type I Mucopolysaccharidosis Progressive Rod Cone Degeneration-prcd-pra 1 Canine Hyperuricosuria Centronuclear Myopathy Cystinuria Exercise Induced Collapse Malignant Hyperthermia (RYR1) Mytotubular Myopathy X Linked Narcolepsy Progressive Rod Cone Degeneration-prcd-PRA 1 Pyruvate Kinase Deficiency Retinal Dysplasia/OSD Skeletal Dysplasia 2 (COL11A2) Elliptocytosis (B-spectrin) Hereditary Nasal Parakeratosis (Dry Nose) K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Spotting Locus (W Gene) Long Hair Gene K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) Coat Colour Dilution Alopecia (CDA) 1 Please note that these diseases are patented/licensed and therefore certain restrictions apply. 15

16 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours Mastiff Canine Multifocal Retinopathy I Progressive Retinal Atrophy (Dominant) Degenerative Myelopathy Long Hair Gene K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) Spotting Locus (W Gene) Miniature Poodle Miniature Schnauzer Standard Poodle Toy Poodle Degenerative Myelopathy Mucopolysaccharidosis Progressive Rod Cone Degeneration - PRA 1 von Willebrand s Disease Type I Factor VII Deficiency Myotonia Congenita Progressive Retinal Atrophy - Type A Mullarian Duct Syndrome Degenerative Myelopathy Neontal Encephalopathy von Willebrand s Disease Type I Mucopolysaccharidosis Progressive Rod Cone Degeneration - PRA 1 Elliptocytosis (B-spectrin) Degenerative Myelopathy Progressive Rod Cone Degeneration - PRA 1 von Willebrand s Disease Type I Gangliosidosis (GM1 and HEX B) Mucopolysaccharidosis K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) K-Locus (Dominant Black) K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus A-Locus Agouti (ASIP) E-Locus (Extension) EM-Locus Melanistic Mask/Grizzle 1 Please note that these diseases are patented/licensed and therefore certain restrictions apply. 16

17 Full Breed Profiles (all include a DNA profile) Popular Breeds Breed(s) Diseases Traits & Coat Colours Staffordshire Bull Terrier Degenerative Myelopathy Hereditary Cataract L2-Hydroxyglutaric Aciduria K-Locus (Dominant Black) B (Brown) Locus - Chocolate/Liver D (Dilute) Locus EM-Locus Melanistic Mask/Grizzle A-Locus Agouti (ASIP) E-Locus (Extension) White Swiss Shepherd Degenerative Myelopathy Ivermectin Sensitivity MDR1 von Willebrand s Disease Type I Hereditary Multifocal Renal Cystadenocarcinoma Canine Hyperuricosuria Haemophilia A / Factor VIII Long Hair Gene E-Locus (Extension) K-Locus (Dominant Black) D (Dilute) Locus Some advice from Orivet... Simple testing for your breed. By requesting a Full Breed Profile you get all the diseases, traits listed for your breed and also a DNA Profile. No matter how many diseases or traits the price is fixed (capped). It s as simple as: 1. Complete your Order nominating your breed. 2. Tick or Select the Full Breed Profile request on the form or website 3. We automatically run and report on ALL tests for your breed (includes a DNA profile). 4. Pricing capped no matter how many tests selected per dog. 17

18 Overview: DNA Testing Programme What is DNA profiling? DNA profiling is simply an abbreviated record of an animal s DNA, its unique set of genes. A complete scan of the millions of genes in an animal s DNA is a very slow and expensive exercise and so various genes that occur in a number of forms are selected as markers. A profile is developed from a standard panel of single nucleotide polymorphisms (SNPs). At Orivet Genetics we use 88 individual SNPS to generate a unique DNA profile. All SNPs have been selected for heterozygosity (variability) across all chromosomes. On its own a DNA Profile is simply a unique identification of that animal. Its main purpose is to interrogate and to determine parentage (pedigree confirmation). What is parentage testing and is there an additional cost for it? Parentage testing is included in the cost of DNA profiling where the profiles of the parents are in the database. There is no additional sample collection or cost to carry out Parentage Confirmation. The information (DNA Profile) of the dam/queen and sire/king is used to interrogate the offspring (puppy/kitten). This allows us to generate a parentage report which states whether the dam and sire QUALIFY or DOES NOT QUALIFY. Please note parentage cannot be determined, that is a parentage cannot be generated, if both the dam/queen and sire/king are not submitted. Is parentage testing accurate in the case of close relatives? The principle behind parentage testing in humans and animals works on exclusions. A dog must have the particular form of each of its genes in common with at least one/both of its nominated parents, otherwise parentage is excluded. In some instances a single exclusion may be a mutation. Mutations may occur spontaneously and usually occur during the process of replication. Based on the principle of mutations this is why exclusions are never concluded on a single exclusion. For all parentage determination we recommend that you submit all possible sires/kings. This will allow offspring to be excluded for all except the one which QUALIFIES. What benefits would I get from disease testing? Most DNA programmmes are voluntary, mainly centered on disease prevention and trying to reduce the incidence. Where there is a DNA test for a specific disease is known to occur (published) in the breed, responsible breeders should use it in selection of breeding stock to avoid producing affected puppies. This is not only for the sake of the animal but for protection of animal buyers and breeders themselves. This removes the substantial risk of consequential damages brought on through litigation by buyers of puppies that subsequently develop the disease. Offspring from a dam that has clear genetic status for a particular disease may be confidently certified as not prone to develop that disease, without testing the puppies. If both parents have clear disease status and have been profiled then the offspring also can be cleared by profiling/ parentage testing. How does disease prevention and clearance by parentage work? Most hereditary diseases have an autosomal recessive mode of inheritance, ie. two copies of the disease gene are required for an animal to be affected - one from each parent, but carriers have one copy and may pass this on to their offspring without themselves showing symptoms of the disease. For a recessive disease, once the genetic status of breeding stock is known, the disease may be prevented in the next generation by ensuring at least one parent has clear status. Most hereditary diseases are of low incidence and so the majority of puppies are likely to be from clear parents. Once parents are tested clear and profiled, their offspring may be cleared simply by DNA profiling/parentage testing. For most dogs, disease testing becomes a one-off cost in one generation for disease prevention a significant cost saving overall. The cost of DNA profiling is much lower than genetic disease testing. 18

19 Overview: DNA Testing Programme Do I need to have separate samples collected for profiling and genetic disease? The DNA collected by buccal swab (nylon brushes) normally contains enough DNA for profiling and any current or anticipated genetic disease testing. If more is needed for any purpose there would be no charge for collection. Stored DNA samples may be used for further tests if required, obviating the need for further sample collection, but also for research purposes. Why is positive identification required aren t breeders trusted? Positive identification should be considered a key component of any DNA program. Any system which does not include positive ID is prone to error. It is fundamental that the DNA result is tied to the dog presented for DNA collection. The test result may be used for parentage testing for the dog itself and for its offspring. Accuracy in tying of results is necessary for clearance of offspring from diseaseclear parents by parentage testing. Why do we need independent collectors? Collection procedure is a key component in the program s accuracy. Collection protocols are directed at reducing the cost compared to blood sampling, together with training to avoid human errors and possibility of fraud inherent where owners collect from their own dogs. Collection of DNA samples is via a network of trained, independent Collection Agents and veterinarians accordingly. The importance of this is to ensure accuracy in tying results to the dog presenting, by: checking positive identification of the dog presenting checking for accurate completion of the form skill in taking and identifying swabs assigning a unique laboratory processing number for each sample checking to minimise human error (note technology has been developed for printing of bar codes direct from the microchip reader to remove the source of human error in transposing long numbers) minimising the risk of fraud. 19

20 Disease Mode of Inheritance Mode of Inheritance is the pattern or the manner in which a particular genetic trait or disease is passed from one generation to the next. Common modes of inheritance are listed below. Autosomal Recessive An autosomal recessive condition means that the condition is expressed in an individual with two mutant/damaged copies of the same gene (or one damaged copy from each parent). Both parents must be at least carriers to pass on the disease. Some diseases may occur in higher frequencies in certain breeds. Autosomal recessive conditions typically affect both males and females equally. Autosomal recessive/dominant inheritance with incomplete penetrance Penetrance refers to the percentage of individuals with the damaged/mutant gene that show the physical feature and symptoms of the disorder. Most autosomal conditions have complete penetrance, but some diseases have incomplete (or reduced) penetrance. Incomplete penetrance is most likely a result of the way the gene interacts with other genes as well as the environment. Lastly, it may cause the disorder to look like it is skipping individuals or generations, while in reality it is not. Conditions with incomplete penetrance includes some diseases such as exercise induced collapse and secondary glaucoma whereby an affected animal may not show symptoms or a low level of symptoms until external influences force the defect to appear. Autosomal Dominant An autosomal dominant condition means that the condition is expressed in individuals who have one (or possibly more) mutant/affected copy of the gene. These conditions are caused by genes that are located on chromosomes other than the sex chromosomes (X and Y). Autosomal dominant conditions typically affect both males and females equally and the condition can be inherited from either parent. Sex Linked An X-linked condition results when an animal has a mutation in one of the genes on the X chromosome. X-linked conditions usually affect males more often and more severely than females. Females with a mutation in a gene on one X chromosome and a normal copy of the gene on the other X chromosome are called carriers. They are generally healthy, but they may have male offspring who are affected with the condition. Polygenetic Diseases Refers to the mode of inheritance of quantitative traits. Polygenetic diseases are influenced by multiple (two or more) genes, not just one. In addition to involving multiple genes, the environment and nutrition also play a part in the development of the disease. An example of a polygenetic disease is hip dysplasia. 20

21 Disease Results NORMAL/CLEAR NO VARIANT DETECTED No presence of the variant (wild type) is detected. The animal is clear of the disease, will not pass on any disease-causing mutation. Breeding Hint: Any animal tested NORMAL will not develop the disease and can be bred with any other animal (tested or not tested) and never pass on that disease. CARRIER/HETEROZYGOUS ONE COPY DETECTED One copy of the normal gene (wild type) and affected (variant) gene is present, will not exhibit disease symptoms or develop the disease. Consideration needs to be taken if breeding this animal - if breeding with another carrier or affected or unknown then it may produce an affected offspring. Breeding Hint: Any animal tested as a Carrier status can be enjoyed without the fear of developing medical problems but when bred will pass on the disease gene 50% of the time. Avoid mating with another carrier as you have a 25% chance of producing an affected animal. AFFECTED HETEROZYGOUS ONE COPY DETECTED One copy of the normal gene (wild type) and affected (variant) gene is present, yet due to the dominant mode of inheritance of the disease the animal may show symptoms (affected). Appropriate treatment should be pursued by consulting a veterinarian. Breeding Hint: Any animal tested as AFFECTED can still be used for breeding purposes and should be bred with a NORMAL animal. 100% of offspring will be CARRIERS. AFFECTED/POSITIVE HOMOZYGOUS TWO COPIES DETECTED Two copies of the disease gene (variant) are present, the animal may show symptoms (affected) associated with the disease. Appropriate treatment should be pursued by consulting a veterinarian. Breeding Hint: Any animal tested and AFFECTED (ONE COPY) can be used for breeding purposes and should be bred with a NORMAL. 25% of offspring will be NORMAL. Avoid mating any Affected animals with a dominant mode of inheritance. NORMAL CARRIER AFFECTED Although breeding NORMAL or CLEAR animals should be seen as a priority for any breeder, temperament and other key traits should also be considered. This is why using AFFECTED or CARRIERS in breeding programmes should be considered especially with animals that show excellent temperament. Always consider the severity and incidence of the disease as part of your breeding programme. 21

22 Breeding Strategies The following diagrams are designed to assist breeders with breeding and expected outcomes when mating normal, carrier and affected animals. Please Note: The breeding outcomes shown in the diagrams below represent what are the expected outcomes (average) when mating NORMAL, CARRIER and AFFECTED animals. The outcomes are based on Mendelian genetics that states each individual has two factors for each trait, one from each parent. Some of the outcomes below may vary due to the probability of inheritance not being equal. Expected outcomes PARENTS CARRIER AFFECTED CARRIER CARRIER CARRIER NORMAL OFFSPRING Affected to Carrier matings will produce 50% Carriers and 50% Affected Note: No NORMAL Offspring produced Definite outcomes Carrier to Carrier matings will produce 50% Carriers and 25% Affected and 25% Normal Carrier to Normal matings will produce 50% Carriers and 50% Normal Note: No AFFECTED Offspring produced NORMAL NORMAL NORMAL AFFECTED AFFECTED AFFECTED Normal to Normal matings will produce 100% Normal Normal to Affected matings will produce 100% Carriers Affected to Affected matings will produce 100% Affected 22

23 Orivet Technology What type of genetic variation does Orivet detect? The most abundant form of genetic variation in any genome is known as the single nucleotide polymorphism (SNP). A SNP is the substitution of a single nucleotide in a stretch of DNA. When this single nucleotide change reaches high frequency in a population it is referred to as SNP, however when this change results in the loss of function of a specific gene we refer to this as a mutation. With reference to canine genetic testing, a large proportion of disease causing mutations are the result of single nucleotide changes inherited in an autosomal recessive manner. These mutations can be assessed using small amounts of DNA extracted from a buccal swab collection. How does Orivet detect single nucleotide mutations? Orivet uses a technology known as Single Base Extension (SBE) to detect disease causing mutations. The principle of the technique involves using Polymerase Chain Reaction (PCR) to amplify a specific region of the DNA harbouring the disease causing mutation (Box 1). Once the target sequence is amplified we can use a synthetic DNA sequence called a primer which is complementary to the target sequence of interest. This primer binds directly adjacent to the position of the mutation and is extended by a single nucleotide (Box2). If a mutation is present, it will produce a unique profile in comparison to a normal control sample (Box3) allowing Orivet to detect mutations with high accuracy. What type of factors can affect the performance of this technology? The quantity and quality of the DNA sample represents the most common factor affecting the performance of this technology. While buccal swabs represent an efficient and non-invasive method for DNA collection, the quality and quantity of sample is dependent on how many cheek cells are collected onto the brush. Too little DNA can result in a phenomenon call test dropout in which only a partial disease or DNA profile can be generated for that sample. To avoid this problem please read our detailed collection instructions provided at. CLARIFICATION OF GENETIC TESTING The goal of genetic testing is to provide breeders with relevant information to improve breeding practices in the interest of animal health. However, genetic inheritance is not a simple process, and may be complicated by several factors. Below is some information to help clarify these factors. 1. Some diseases may demonstrate signs of what geneticists call genetic heterogeneity. This is a term to describe an apparently single condition that may be caused by more than one mutation/and or gene. 2. It is possible that there exists more than one disease that presents in a similar fashion and segregates in a single breed. These conditions - although phenotypically similar - may be caused by separate mutations/ and or genes. 3. It is possible that the disease affecting your breed may be what geneticists call an oligogenic disease. This is a term to describe the existence of additional genes that may modify the action of a dominant gene associated with a disease. These modifier genes may for example give rise to a variable age of onset for a particular condition, or affect the penetrance of a particular mutation such that some animals may never develop the condition. The range of hereditary diseases continues to increase and we see some that are relatively benign and others that can cause severe and/or fatal disease. Diagnosis of any disease should be based on pedigree history, clinical signs, history (incidence) of the disease and the specific genetic test for the disease. Penetrance of a disease will always vary not only from breed to breed but within a breed, and will vary with different diseases. Factors that influence penetrance are genetics, nutrition and environment. Although genetic testing should be a priority for breeders we strongly recommend that temperament and phenotype also be considered when breeding. 23

24 PCR A G Synthetic oligonucleotides referred to as primers (designated by the arrows), are used to amplify the region of DNA harbouring the causative mutation. In this case a simple A>G substitution represents the mutation. Single Base Extension A A G G A single primer referred to as the extension primer, binds to the region of DNA directly adjacent to the mutation (yellow arrow). The primer is then extended by a single nucleotide allowing the detection of the specific mutation at that position in the DNA. Analysis A An A>G substitution will result in a change in DNA profile easily distinguishable by a number of commercial platforms. G 24

25 Canine Coat Colour Coat series c-series: curl on chromosome 27, gene KRT17 The c-series affects the curliness of hair. It encompasses the following alleles: C (curl, dominant), c (straight, recessive). s-series: shorthair on chromosome 32, gene FGF5 The s-series has a major affect on the length of hair. It encompasses the following alleles: S (shorthair, dominant), s (longhair, recessive). w-series: wirehair on chromosome 13, gene RSPO2 The w-series affects furnishings, hair texture, and possibly hair cycle. It encompasses the following alleles: W (wirehair, dominant), w (non-wirehair, recessive). Non-wire (ww) is required for a dog to have a regular shorthair coat or a regular longhair coat. Curl does not show up on [most] shorthairs, but it is obvious when it occurs in non-wire/longs and in wire-longs. Colour series (Notes: The b-series/d-series combination determines the dog s skin nose, pads, etc. pigment colour.) b-series: black on chromosome 11, gene TyrP1 The b-series affects shape and organisation of eumelanin. black It encompasses the following alleles: B (black, dominant), bc (brown, recessive), bd (chocolate, recessive), bs (chocolate, recessive). Chocolate is called brown, liver, or even red in some breeds. chocolate The chocolate alleles, all independent mutations from the black allele, do not always interact with each other as expected. The exact nature of their interaction is still being confirmed. 25

26 c-series: concentration unknown The c-series affects concentration/depth of pheomelanin. It does not affect eumelanin. red blush It encompasses the following alleles: C (full concentration of pheomelanin, dominant) and cch (chinchilla dilution, recessive) and might also include such postulated alleles as cb (blue-eyed/cornaz dilution, recessive), cd (dondo dilution, recessive), ce (extreme dilution, recessive), and/or c (albino dilution, recessive). The red and cream alleles are co-dominant so that one allele of each in one dog will generally give a colour lighter than red but redder/darker than cream, hence the term blush here to describe a dog with one red allele and one cream allele. Red in some breeds is called fawn, sable, mahogany, chestnut, tan, rust, brown, or liver. cream Blush in some breeds is called: orange, apricot, red-fawn, gold, or yellow. Cream in some breeds is called: fawn, fallow, wheaton, lemon, or yellow. d-series: dilution on chromosome 25, gene MLPH The d-series affects concentration/depth of eumelanin and pheomelanin. It affects eumelanin to a great extent and affects pheomelanin to a lesser extent. dilute black (blue) dilute chocolate (isabella) It encompasses the following alleles: D (full concentration of pheomelanin/eumelanin, dominant), d (dilution of pheomelanin/eumelanin, recessive). Blue is called grey, gray, or silver in some breeds. Isabella is called fawn, lilac, silver, mouse, drapp, pearl, beaver, or café-au-lait in some breeds. The colour is that of the weimaraner. While many dilute dogs of varying breeds are fine, many other dilute dogs of varying breeds have colour dilution alopecia. The condition requires the dog to be dilute, although it seems another gene maybe at play to cause the disorder. D-series dilution has been called blue dilution by some in the past, but this is somewhat of a misnomer, as d-series dilution can dilute any coat colour red and its variants, black, and all variants of chocolate. i-series: intense unknown This is a postulated gene that would modify pheomelanin intensity. Therefore, ALL dogs are either red, blush, or cream (or some as-yet not specifically determined, more-diluted c-series variation thereof), which is their pheomelanin colour, AND are either black or chocolate, which is their eumelanin colour (with or without subsequent d-series dilution). 26

27 Pattern series (Notes: Black & red are used as default eu/pheo colours in this chart. Chococlate & cream etc could have just as easily been used.) a-series: agouti on chromosome 24, gene ASiP The a-series affects the distribution of eumelanin. ASPS It encompasses the following 4 alleles: A (ASPS; [mostly] solid pheomelanin, dominant), a w (wildboar/sable/ wild-type banding), a t (points), a (ASES; solid eumelanin, recessive). wildboar points ASES A has been referred to as ay in the past. However, it is the most dominant allele on the series so is due an uppercase letter. At this locus, the more dominant the pattern, the less eumelanin. Points is also referred to as phantom in poodles. Only one corresponding allele of two or more saddle determiners has been discovered (another allele that corresponds has not been), and it is located next to gene ASiP. Saddling interacts with points to restrict eumelanin even further than it would be on a pointed dog. In cases where dogs do not carry the dominant black gene (K) and are not ee for the E locus the Agouti gene is expressed and will determine the dog s coat. Although the A locus does determine the base coat colour the colour can be modified by other genes B and D Locus. e-series: extension on chromosome 5, gene Mc1R The e-series affects production/restriction of eumelanin. masking It encompasses the following alleles: E m (masking, dominant), E g (grizzle), E (default), e (ESPS; solid pheomelanin, recessive). grizzling default ESPS Masking, in addition to the mask, will allow whatever is on the a-series to show. Double masking looks the same as single masking. Grizzle must be accompanied by points on the a-series in order to be expressed. ESPS will suppress all eumelanin production in the hair so that only pheomelanin will be present. The lack of eumelanin in the hair is also why an ESPS cannot have eumelanistic shading, why a recessive dapple (Mm) will not show dappling (except in the eyes, if dappling occurs on them), and why a recessive double dapple (MM) will not show dappling except for the white areas (except in the eyes, if dappling occurs on them). k-series: black on chromosome 16, gene CBD103 The k-series affects distribution/extension of eumelanin. KSES It encompasses the following alleles: K (KSES; [mostly] solid eumelanin, dominant), k br (brindling), k (default, recessive). brindle default K is also referred to as KB, and k is also referred to as ky, however the extra letters are not necessary and can be confusing. Dominant K is epistatic to whatever is found at the a-locus, meaning that it suppresses expression of all a-series alleles. 27

28 Pattern intra-hierarchy E m E m, E m E g, E m E, or E m e = masked E g E g, E g E, or E g e [+ a t *] = grizzle, only when a t a t or a t a is present on the a-series EE or Ee = default to the pattern present on the k-series ee = ESPS KK, Kk br, or Kk = KSES k br k br or k br k = brindle, + defaulting to the pattern present on the a-series kk = default to the pattern present on the a-series AA, Aa w, Aa t, or Aa = ASPS a w a w, a w a t, or a w a = wild boar a t a t or a t a = pointed (can instead be saddled if two other factors are involved) aa = ASES Pattern intra-hierarchy Amongst the patterns, the e-series can be thought of as the most dominant, and the a-series can be thought of as the most recessive. If the dog is ee, all other patterns (save for white-creating patterns) will be hidden. If the dog is E m *, E g *, or E*, the k-series will be expressed [or, if kk, then the a-series will be expressed]. If the dog is K*, all other patterns on the k-series and all patterns on the a-series will be hidden. If the dog is [non-ee and] kk, the a-series will be expressed. If the dog is A*, all other patterns on the a-series will be hidden. If the dog is a t *, saddle may be expressed if present. 28

29 Coat Colour Nomenclature with Explanations E LOCUS - MC1R All Variants E m /E m 2 copies of mask dog has mask E m /E 1 copy of mask and 1 copy of black dog dog has mask and carries black E m /e 1 copy of mask and 1 copy of red/yellow dog has mask and carries red/yellow/cream E/E 2 copies of black E/e - 1 copy of black and 1 copy of red/yellow/cream/apricot/white e/e 2 copies of red/yellow are present. Dog is red/yellow/cream/apricot/white D LOCUS - DILUTE (MLPH) D/D Full colour, no dilute gene present D/d Full colour, carries 1 copy of the dilute gene d/d Dilute, 2 copies of the dilute gene K LOCUS - DOMINANT BLACK Black/brindle or fawn K/K Two copies of dominant black are present, no brindle or fawn offspring will be produced, will not express Agouti phenotype K/N One copy of dominant black is present, brindle or fawn offspring can be produced, depending on the genotype of the mate Note: with some breeds of dog this result is associated with the brindle pattern N/N Dog does not have the dominant black mutation. Dog s coat colour will be determined by the agouti gene may be brindled or not brindled A LOCUS - AGOUTI a y /a y Homozygous for fawn/sable (no hidden colour) pure factoring/no white factor a y /a w Dog has fawn and carries wild sable (hidden colour wild sable) a y /a t Dog has fawn and carries black-and-tan (hidden colour tri or tan points) tri factored a y /a Dog has fawn/sable and carries recessive black (hidden colour solid black or bi) bi factored/white factoring a w /a w Homozygous for wild-sable (no hidden colour) a w /a t Dog has wild-sable and carries black-and-tan ( hidden colour tri/tan points) a w /a Dog has wild-sable and carries recessive black (hidden colour solid black or bi) a t /a t Homozygous for black-and-tan/tricolour (no hidden colours) Tri factored/white factored a t /a Dog has black-and-tan and carries recessive black. Bi factored/white factored a/a Homozygous for recessive black solid black/bi (no hidden colour) B LOCUS - BROWN (TYRP1) B/B Does not carry brown cannot have brown offspring B/b One copy of brown present carrier b/b Two copies of brown present black pigmented (if present) is diluted to brown, red/yellow dogs havebrown noses and foot pads (liver pigment) Many genes are involved in production of coat colour and fur type. The results above are specific for known variants in ASIP, MC1R, TYRP, MLPH, CBD103, KRT71, RSPO2, MITF, and FGF5. The results do not completely describe the colour and fur type of a dog. 29

30 Canine Colour Coat Chart 30

31 An Overview of the Canine Agouti (A) Locus Explanation of Key Agouti (A) Series Results The Agouti patterns can be influenced by any of the following loci E, D, B, Brindling (k br ), Spotting (W) and Merle (M) Loci. Please Note: the genes on the A series CAN ONLY be expressed (visible) if the dog has one of the following K genotypes kk, kk br or k br k br. Some breeds are automatically fixed as kk or KK and should/must always be that result at the K Series. The terminology referred to can vary from breed to breed. The key is to note that the result is consistent and only the description will vary according to your breed. Dominance hierarchy of the A Locus ay at a ie. ay trumps at and at trumps a Fawn/Sable (ay) is the dominant Agouti series and only needs one to express it Result ay/ay Possible colour pattern FAWN or SABLE may or may not have a mask (please see E Locus) and may or may not have white - Pure Fawn or Sable DOES NOT carry tan points or recessive black. Will only produce fawn/sable offspring. ay/at FAWN or SABLE may or may not have a mask (please see E Locus) and may or may not have white - CARRIES tan points (at), does not carry recessive black. If mated with another tan point (at) carrier may produce a tan point offspring. ay/a FAWN or SABLE may or may not have a mask (please see E Locus) and may or may not have white - CARRIES recessive black (a). Sable Merle (M) very rare ay/at ay/a M SABLE may or may not have a mask (please see E Locus) and may or may not have white - CARRIES tan points, does not carry recessive black. M SABLE may or may not have a mask (please see E Locus) and may or may not have white - CARRIES recessive black, does not carry tan points. Please Note: a Blue Merle is an actual tri so there can be NO ay/ay M or Pure Sable Merle Tan points (at) Tan points (at) is bottom recessive so this means that a dog MUST HAVE 2 copies of the at gene to express the tan points. Tan points include - tan tips over the eyes, tan on the side of the muzzle, tan patches on the chest, tan on the legs and feet and under the tail e.g. breeds such as the Dobermann, Gordon Setter and Rottweiller. In some breeds white markings may over ride the tan markings on the chest and feet e.g breeds such as the Australian Shepherd (known as a black tri), Bernese Mountain Dog, Shetland Sheep Dog, Collies and Basenji. A tan pointed dog can only carry recessive black. 31

32 An Overview of the Canine Agouti (A) Locus Result at/at at/a Possible colour pattern TAN POINTS - may or may not have a mask (please see E Locus), tan points may be brindled (please see K Locus) and may or may not have white - does not carry recessive back. TAN POINTS - may or may not have a mask (please see E Locus), tan points may be brindled (please see K Locus) and may or may not have white - CARRIES recessive black. BLUE MERLE is the same as a TAN POINTS but with the presence of the Merling Gene (M) at/at M BLUE MERLE may or may not have a mask (please see E Locus) and may or may not have white - does not carry recessive black. at/a M BLUE MERLE may or may not have a mask (please see E Locus) and may or may not have white - CARRIES recessive black. Recessive black (a) Is referred to as the a allele and is very rare found in only a small number of breeds Schipperke and Puli. Result a/a a/a M Possible colour pattern RECESSIVE BLACK may or may not have a mask (please see E Locus) and may or may not have white. BLUE MERLE may or may not have a mask (please see E Locus) and may or may not have white. Summary Four alleles occur at the A series; Sable/Fawn [ay]; Agouti [aw]; Tan Points [at]; and Recessive Black [a] The hierarchy of these alleles is the following: ay is dominant to aw, at and a - ay/aw, ay/at and ay/a will express fawn/sable aw dominant to at and a - aw/at and aw/a will express agouti at dominant to a - at/a will express tan points 32

33 Variable Coat Colour Alleles - Canine breed possible coat(s) possible colour(s) possible primary pattern(s) possible secondary pattern(s) typical CCPs variable coat Afghan Hound w, S, s, s t, s u, c B, C, c ch?, D A, a t, E m, E g, E, e, K, k br, k G, g, m, S w s* c B D A E m k g m S s c aek Airedale Terrier W, S, C, c B, C, D a s, E, k g, m, S W S B C D a s, E, k g m S c Akita w, S, s c, c B, b, D A, a w, E m, E, K, k br, k g, m, S, s, t, U, u w S c B D A Em kbr/k g m s t U/u s b ek American Staffordshire Terrier w, S, c B, b, C, c, D, d A, a w, at, E m, E, K, k br, k g, h, M, m, S, s, t w S c B/b D/d A E m /E K/k br /k g m S/s t bcd aek Australian Cattle Dog w, S, c B, b, C, D A, a t, a s, E, e, k g, m, R, s w w S c B C D A/a t E k g m R s w b ae Australian Shepherd w, S, s, c B, b d, b s, C, D, d A, a t, a, E m, E, e, K, k g, h, M, m, S, s i w S/s c B C D a t, E, K/k g h M/m S/s i t s bd aek Australian/Silky Terrier W, s?, c B C D a s, E, k G, g, m, S W s? c B C D a s E k G m S Basenji w, S, c B, C, D, d A, aw, at, as, a, E, e, K, kbr, k g, m, si, t w S c B C D A/at E K/kbr/k g m si t d aek Basset Hound w, S, s, c B, b, C, D, d A, a t, a s, E m, E, e, k g, m, s, T, t w S c B C D A/a t E m /E k m s T/t s bd ae Beagle w, S, c B, b, C, D, d a s, E, e, k g, m, s, T, t w S c B C D a s E/e k g m s t bd e Belgian Shepherd w, s, c B, C, c ch, D, d A, a t, a, E m, K, k br, k g, m, S w s c B C/c ch D A/a E m K/k g m S cd ak Bichon Frisé W, s, C, c B, D? g, m W s C B D g m c? Border Collie w, S, s, C, c B, b c, b d, b s, C, D, d a w, a t, a, E, e, K, k g, h, M, m, S, s w s c B C D a t E K/k g h M/m s sc bd aek Boston Terrier w, S, c B, b, C, D, d A, a t, E m, e, k br, k g, m, s i, s w, t w S c B C D A E m k br g m s i t bc aek Boxer w, S, c B, C, D A, E m, k br, k g, m, S, s w S c B C D A E m k br /k g m S/s t k Bull Terrier w, S, c B, b, C, D A, a t, E, K, k br, k g, m, S, s w, T, t w S c B C D A/a t E k br /k g m S/s w t b ak Bullmastiff w, S, c B, b, C, c ch, D, d A, Em, k br, g, m, S w S c B C/c ch D A E m k br /k g m S bd k Cavalier King Charles Spaniel w, s, c B, b, C, D a t, E, e, K, k g, m, s, t w s c B C D a t E/e k g m s t b ek Chihuahua w, S, s, C, c B, b, C, D, d A, a w, a t, E m, E, e, K, k br, k g, h, M, m, S, s w, t w S c B C D at E K/k g h m S sc bd aek Chow Chow w, S, s, c B, C, D, d A, E, e, K, k g, m, S w s c B C D A E K g m S s d ek Cockapoo Ww, s, Cc B, b c, b d, b s, C, c ch, D, d A, a t, a, E m, E, e h, e, K, k br, k G, g, h, M, m, S, s, T, t (see origin breeds) wc bcd aek Cocker Spaniel w, s, c B, b c, b d, b s, C, c ch, D A, a t, a, E, e h, e, K, k g, h, M, m, R, r, S, s, T, t w s c B C/c ch D A/a t E/e K/k g h m S/s T/t bc aek Collie (Rough & Smooth) w, S, s, c B, D, d A, a t, E, k g, h, M, m, s, t w S/s c B D A/a t E k s d a Corgi w, S, s, c B, b, C, D, d A, a w, a t, a s, E m, E, e, k br, k g, h, M, m, s, t, U, u w S c B C D A/a t E m /E k br /k M/m s t U s bd aek Curly Coat Retriever w, C, s? B, b, D E K g, m, S w C s B/b D E K g m S b variable colour(s) variable pattern(s) Notes: as isn t really on the a-series nor does it appear to be due to a single allele; bf in french bulldogs; eh in english cocker spaniels; Mf in North American dachshunds (but tests as M with the original merle test). No test can distinguish kbr from k at this time because of the complexity of the brindle (kbr) mutation. There is another allele in pugs that causes what is called silver, but it is not known if this is just heavy shading or if it s wildboar or grizzle or something else. 33

34 Variable Coat Colour Alleles - Canine breed possible coat(s) possible colour(s) possible primary pattern(s) possible secondary pattern(s) typical CCPs variable coat Dachshund W, w, S, s, C, c B, b c, b s, C, c ch, D, d A, a w, a t, E, e, K, k br, k g, h, M, M f, m, S, s, T, t W/w S/s c B/b C D A/a t E k br /k h M/m S T/t wsc bcd aek Dalmatian w, S, s, c B, b c, b d, b s, D A, a t, E, e, K, k br, k g, m, s, T w S B C D E K m s T b aek Dobermann Pinscher w, S, c B, b d, D, d a t, E, e, k g, m, S w S B D a t E k m S bd e English/British Bulldog w, S, c B, b, C, c ch?, D, d A, a t, E m, E?, K, k br, k g, m, S, s, t w S c B C D A E m k br /k g m s t b ak English Mastiff w, S, s, c B, C, c ch, D, d A, E m, K, k br, k g, m, S w S c B C/c D A E m k br /k g m S d k English Springer Spaniel w, s, c B, b d, b s, C, D a t, E, e, K, k g, m, R, r, s, T, t w s c B/b d /b s C D a t E K/k g m s r t b ek Eurasier w, s, s d, s u, c B, b, C, c ch, D A, a w, a t, a, E m, E, e, k m, S w s/s d /s u c B C/c D A/a w E m /E k m S s bc ae French Bulldog w, S, c B, b c, b d, b f, b s, C, c ch, D, d A, a w, a t, a, E m, E, e, K, k br, k g, m, S, s, T, t w S c B D A E m /E K/k br /k g m S/s t bcd aek German Shepherd w, S, s, c B, b, C, c ch, D, d A, a w, a t, a s, a, E m, E, K, k br, k g, m, P, p, S w S/s c B C D a w /a s E m k g m p S s bd aek German Shorthaired Pointer w, S, c B, b c, b d, b s, C, D a t, E, e, K, k g, m, R, r, S, s, T w S c b C D a t E K g m R s b ek German Wirehaired Pointer W, S, c B, b c, b d, b s, C, D a t, E, e, K, k g, m, R, r, S, s, T W S c b C D a t E K g m R s b ek Goldendoodle (F1) Ww, s, Cc B, b c, b d, b s, C, c ch, D, d A, a t, E m, E, e, K, k br, k G, g, m, S, s (see origin breeds) wc bcd aek Golden Retriever w, s, c B, C, c ch, D e g, m, S w s c B D e g m S c Great Dane w, S, c B, b, D, d A, a t, E m, E, K, k br, k g, H, h, M, m, S, s w S c B D A E m K/k g H/h M/m S/s bd aek Greyhound w, S, c B, b, C, c ch, D, d A, E m, E, e, K, k br, k g, m, S, s, T, t w S c B C/c ch D/d A E m K/k br /k g m s t bcd ek Irish Setter w, s, c B, b, C, D e g, m, S w s c B/b C D e g m S b Italian Greyhound w, S, c B, b c, C, c, D, d A, a t, E m, E, e, K, k br, k g, m, S, s w, T, t w S c A E m /E/e K/k g m S/s t bd ek Jack Russell Terrier W, w, S, c B, b, C, D, d A, a w, a t, a s, E, e, K, k g, m, s w, T, t W/w S c B C D A/a w /a t /a s E/e k g m sw t w bd aek Japanese Chin w, s, c B, b s A, a t, E, e, K, k g, m, s, t w s c B D A/a t E/e K/k g m s t b aek Kelpie w, S, s?, c B, b, D, d a t, a, E, e, k g, m, s i, t w S/s c B D a t /a E k g m s i t s bd ae Kerry Blue Terrier W, S, s, C, c B E m, E, K G, m, S W B D E m /E K G m S s??? Labradoodle (F1) W, S, s, Cc B, b c, b d, b s, C, c ch, D, d A, a t, E, e, K, k br, k G, g, m, S (see origin breeds) s bcd aek Labrador Retriever w, S, s, c B, b c, b d, b s, C, c ch, D, d a t, E, e, K, k br g, m, S w S c B/b C/c ch D a t E/e K g m S b?ek Maltese W, s, C, c?? m? c?? Newfoundland w, s, c B, b c, b d, b s, D, d E, K g, m, S, s w s c B/b c D E K g m S/s bd? variable colour(s) variable pattern(s) Notes: a s isn t really on the a-series nor does it appear to be due to a single allele; b f in french bulldogs; e h in english cocker spaniels; M f in North American dachshunds (but tests as M with the original merle test). No test can distinguish k br from k at this time because of the complexity of the brindle (k br ) mutation. There is another allele in pugs that causes what is called silver, but it is not known if this is just heavy shading or if it s wildboar or grizzle or something else. 34

35 Variable Coat Colour Alleles - Canine breed possible coat(s) possible colour(s) possible primary pattern(s) possible secondary pattern(s) typical CCPs variable coat Papillon w, s, c B, b, C, D, d A, a w, a t, E, e, K, k g, m, s w s c B C D (any) bd aek Patterdale W, w, S B, b, C A, a w, E, K, k g, m, S w S B C D E K g m S w b ak Pekingese c B, b, C, c ch, D, d E m, E S, s??? e Pharaoh Hound w, S, c b, C, D e g, m, S w S c b C D e g m S Pomeranian w, s, c B, b, C, c ch, D, d A, a w, a t, E, e, K, k br, k g, h, M, m, S, s m (otherwise any) bcd aek Poodle W, s, C B, b c, b d, b s, C, c ch, D, d A, a t, E m, E, e, K, k br, k G, g, m, S, s (any but points) bcd aek Portuguese Water Dog W, w, s, C, c B, b d, b s, D, d K G, g, m, R, r, S, s, T, t W s C/c B/b D K m wc bd? Pug w, S, c B, b, C, c ch, D A, E m, K, k br, k g, m, S w S c B c ch D A E m K/k g m S b k Puli W, s, C B, D A, a, E, e, K, k G, g, m W s C B D A/a E/e K/k aek Rhodesian Ridgeback w, S B, b, C, D, d A, a w, a t, E m, E, k br, k g, m, S, s w S B C D A E m k g m S bd aek Rottweiler w, S, s, c B, b, C, D a t, E, e, k g, m, S w S c B C D a t E k g m S s b e Saluki w, S, s, c B, b d, b s, C, c ch? A, a t, E m, E g, E, e, K, k br, k m, S, s, t, U, u (any but chocolate) s b aek Samoyed w, s, s c, c B, D a e m? s?? Schnauzer W, S, s B, b, D a w, a t, E m, E, e, K, k m, S, s, T, t W B D a w E K/k m s b aek Shar-Pei w, S, c B, b c, b s, c ch, D, d A, a w, E m, E, e, K, k g, m, S, s, T, t w S c B c ch D A E m /E/e K/k g m S T/t bd aek Shetland Sheepdog w, s, c B, C, D, d A, a t, a, E, k br, k g, h, M, m, s i, s w, t w s c B C D A/a t /a E k g h M/m s i t d ak Shih Tzu W, s, c B, b, C, c ch, D, d A, at, Em, E, K, k br, k g, m, S, s W s c B C/c ch D A E m /E K/k br /k g m S/s bcd aek Siberian Husky w, S, s c, c B, b, C, c ch, D A, a w, a s, a t, E, K, k m, S, s, t, U (any) s bc ak Staffordshire Bull Terrier w, S, c B, b, C, c ch, D, d A, a t, E m, E, K, k br, k g, h, M, m, S, s, t w S c B D A E m /E K/k br /k g h m S/s t bcd aek Vizsla W, w, S, c b, C, D A, a w, a t, e g, m, S w S c b C D e g m S w? West Highland White Terrier W, S, s, c B D e m W c B D e m s?? Weimaraner w, S, s, c B, b c, b d, b s, d a t, E, K g, m, S w S c b d E K g m S b Whippet w, S, c B, D, d A, E m, E, K, k br, k g, m, S, s w S c B D/d E m /E K/k br /k g m s d k Yorkshire Terrier W, s?, c B, b d, b s, C, c ch, D, d a s, E, e, k G, g, m, S, s W s? c B C D a s E k G m S? bcd e variable colour(s) variable pattern(s) Notes: as isn t really on the a-series nor does it appear to be due to a single allele; bf in french bulldogs; eh in english cocker spaniels; Mf in North American dachshunds (but tests as M with the original merle test). No test can distinguish kbr from k at this time because of the complexity of the brindle (kbr) mutation. There is another allele in pugs that causes what is called silver, but it is not known if this is just heavy shading or if it s wildboar or grizzle or something else. 35

36 Multi Drug Sensitivity MDR1 (Ivermectin) Some dog breeds are more sensitive to certain drugs than other breeds. Collies and related breeds, for instance, can have adverse reactions to drugs such as Ivermectin. Drug sensitivities result from a mutation in the multi-drug resistance gene (MDR1). This gene encodes a protein, P-glycoprotein that is responsible for pumping many drugs and other toxins out of the brain. Dogs with the mutant gene cannot pump some drugs out of the brain as a normal dog would, which may result in abnormal neurologic signs. The result may be an illness requiring an extended hospital stay - or even death. This test is most commonly used for Ivermectin sensitivity but many other drugs are included. Notably chemotherapy agents and Acepromazine and Butorphanol which tend to cause deeper and more prolonged sedation - see complete list below. Veterinarians are recommended to reduce the dosage by 25% in MDR1 carriers [+/-] and by 30-50% in MDR1 affected dogs [-/-] or [+/+] depending if normal or affected is defined as +. Anti-Parasitic Drugs - Ivermectin substances: Doramectine substances: Moxidectine substances: Loperamide substances: Metronidazole substances Chemotherapy Agents: Immuno-suppressives: Heart glycosides: Antiarrhythmics: Analgesics: Anti-emetics: Antibiotics: Antihistamines: Tranquillisers: Other drugs: Diapec, Ecomectin, Equimax, Eqvalan, Ivomec, Noromectin, Paramectin, Qualimec, Sumex & Virbamec Dectomax Cydectin & Equest Immodium [anti-diarrhoeal] Flagyl Vinblastine, Doxorubicine, Paclitaxel, Docetaxel, Methotrexat & Vincristine Glucocorticoids (Steroids commonly used to treat auto-immune diseases): Dexamethason Cyclosporine A Digoxine & Methyldigoxine Verapamil, Diltiazem & Chinidine Morphine & Butorphenol Metoclopramide, Ondansetron & Domperidon Sparfloxacin, Grepafloxacin; Erythromycin Ebastin Acepromazine Etoposide; Mitoxantrone; Ondansetron; Paclitaxel; Rifampicin. 36

37 ADVANCE DNA Breed Identification Test ADVANCE DNA Breed Identification Test Screens for over 200 breed, types and varieties to determine the ancestry of your mixed breed dog. Determines your dog s genetic make-up back to their great grandparents. Predicts your dog s target genetic adult weight range. The only breed identification test available exclusively to Veterinarians. For more information and to discover the breeds behind your dog, contact your local Veterinarian. Results within 3 weeks. tel Powered by Powered by 37

38 Example of a Genetic Analysis Report OWNER'S DETAILS George Sofronidis Orivet Genetic Pet Care St Kilda, VI 3182 ANIMAL'S DETAILS Registered Name: Aust Ch Holly Rocker Registration No: Pet Name: Buddy Microchip No: Breed: Labrador Retriever Sex: Male Date of Birth / Age: 22/04/10 Colour: Yellow COLLECTION DETAILS Case Number: Date of Test: 30/11/11 Collected By: Hazel ASAP Approved Coll. Mthd.: Yes Sample with Lab ID Number was received at Orivet Genetics, DNA was extracted and analysed with the following results reported: DNA PROFILE The DNA Profile below represents the genetic identification of Aust Ch Holly Rocker SNP01 AG SNP02 TT SNP03 GA SNP04 CC SNP05 GG SNP06 CC SNP07 GG SNP08 GG SNP09 AG SNP10 CC SNP11 GG SNP12 GG SNP13 GG SNP14 AG SNP15 CC SNP16 TT SNP17 CC SNP18 TT SNP19 TT SNP20 TC SNP21 CC SNP22 GG SNP23 AT SNP24 AT SNP25 AG SNP26 GG SNP27 GG SNP28 GG SNP29 AA SNP30 AA SNP31 CC SNP32 AA SNP33 GG SNP34 CC SNP35 CC SNP36 AA SNP37 TT SNP38 CC SNP39 TT SNP40 CC SNP41 TT SNP42 GG SNP43 TT SNP44 GG SNP45 CA SNP46 AG SNP47 CC SNP48 CC SNP49 AA SNP50 AA SNP51 GG SNP52 TC SNP53 GG SNP54 TT SNP55 TT SNP56 TT SNP57 TT SNP58 GG SNP59 CC SNP60 TT SNP61 GG SNP62 CC SNP63 CC SNP64 GG SNP65 TT SNP66 TT SNP67 GA SNP68 TT SNP69 CC SNP70 TC SNP71 GG SNP72 GG SNP73 CT SNP74 CA SNP75 CC SNP76 GG SNP77 CT SNP78 GG SNP79 TT SNP80 AA SNP81 GG SNP82 CT SNP83 TT SNP84 CC SNP85 AA SNP86 CC SNP87 CC SNP88 GG RESULTS REVIEWED AND CONFIRMED BY: Dr. Noam Pik BVs MDSV George Sofronidis BSc (Hons) 38

39 Example of a Genetic Analysis Report OWNER'S DETAILS George Sofronidis Orivet Genetic Pet Care St Kilda, VI 3182 ANIMAL'S DETAILS Registered Name: Aust Ch Holly Rocker Registration No: Pet Name: Buddy Microchip No: Breed: Labrador Retriever Sex: Male COLLECTION DETAILS Case Number: Date of Test: 30/11/11 Collected By: Hazel ASAP Approved Coll. Mthd.: Yes Sample with Lab ID Number was received at Orivet Genetics, DNA was extracted and analysed with the following results reported: DISEASE(S): TRAIT(S): PRIMARY LENS LUXATION (NORMAL / CLEAR - NO MUTATION DETECTED) EXERCISE INDUCED COLLAPSE (NORMAL / CLEAR - NO MUTATION DETECTED) CYSTINURIA (NORMAL / CLEAR - NO MUTATION DETECTED) COBOLAMIN MALABSORPTION (AMNIOLESS DEFICIENCY) (NORMAL / CLEAR - NO MUTATION DETECTED) POMPES DISEASE (AFFECTED / POSITIVE - TWO COPIES ) EPISODIC FALLING SYNDROME (NORMAL / CLEAR - NO MUTATION DETECTED) RETINAL DYSPLASIA/OSD (NORMAL / CLEAR - NO MUTATION DETECTED) PROGRESSIVE RETINAL ATROPHY - RCD4 (NORMAL / CLEAR - NO MUTATION DETECTED) GENERALISED PRA 1 AND 2 (NORMAL / CLEAR - NO MUTATION DETECTED) B (TYRP1 LOCUS) BROWN/CHOCOLATE (AFFECTED - bb BROWN/CHOCOLATE, LIVER OR RED) E-LOCUS (EXTENSION - YELLOW/RED/CREAM/APRICOT (NORMAL EE - DOMINANT BLACK) Please note: The current B-Locus [TYRP1] does not include the stop codon [bs] mutation. This may cause the result shown for some breeds to be incomplete. Dog may be Bb or bb. PENDING TEST(S): IMPROPER COAT PROGRESSIVE ROD CODE DEGENERATION - PRA RESULTS REVIEWED AND CONFIRMED BY: Dr. Noam Pik BVs MDSV George Sofronidis BSc (Hons) 39

40 Feline Disease Lists & Traits Category Phenotype Breed(s) Trait Long Hair Gene All breeds Trait Albinism Siamese Siamese Trait Colourpoint Restriction (Siamese/Burmese) All breeds Trait Amber Norwegian Forest Cat Trait Agouti Black All breeds Trait Cinnamon All breeds Trait Chocolate / Brown All breeds Trait Dilute All breeds Trait White Gloves (Birman Pattern) Birman Trait Curly Coat Cornish Rex Trait Sphynx (KRT71 Variant) Sphynx Trait Devon Rex Coat Devon Rex Trait Curly Coat Slekirk Rex Trait AB Blood Groups All breeds Category Phenotype Breed(s) Disease Alpha Mannisidosis Persian Disease Burmese - Hypokalemia Periodic Polymyopathy Asian, Australian Mist, Bombay, Burmese, Burmilla, Cornish Rex, Devon Rex, Singapura, Sphynx Disease Cardiomyopathy Ragdoll, Maine Coon Disease Chylomicronemia (Lipoprotien Lipase Deficiency) Domestic Shorthair Disease Cystinuria (SLC3A1) Domestic Shorthair Disease Acute Intermitent Porphyria Domestic Shorthair Disease GM2 & GM2 - Gangliosidosis Burmese, Domestic Shorthair, Japanese Domestic, Korat Disease Glycogen Storage Disease Type IV Norwegian Forest Cat Disease Haemophilia B Domestic Shorthair Disease Hereditary Retinal Degeneration PRA (CEP290) Abyssinian, Amercian Curl, American Wirehair, Balinese, Bengal, Colourpoint Shorthair, Cornish Rex, Javanese, Ocicat, Oriental Shorthair, Siamese, Singapura, Somali, Tonkinese Disease Hyperoxaluria (GRHPR) Domestic Shorthair Disease Lipoprotein Deficiency (LPL) Domestic Shorthair Disease Mucopolysacaridosis Type I Domestic Shorthair 40

41 Feline Disease Lists & Traits Category Phenotype Breed(s) Disease Mucopolysacaridosis Type VI Siamese Disease Mucopolysacaridosis Type VII Domestic Shorthair Disease Myoptahy (COLQ) Devon Rex Disease Myotonia Congenita (CLCN1) Various breeds Disease Neurodegenerative Lysosomal Storage Disease Burmese Disease Neimann Pick Persian Disease Peraxial Polydactly Maine Coon, PixieBob Disease Polycystic Kidney Disease Asian, Birman, British Shorthair, Birman, Bombay, Burmilla, Chinchilla, Cornish Rex, Devon Rex, Exotic Shorthair, Himalayan, Persian, Ragdoll, Scottish Fold, Selkirk Rex, Siberian, Snowshoe, Tiffanie Disease Pyruvate Kinease Deficiency Abyssinian, Bengal, Egyptian Manu, La Perm, Maine Coon, Norwegian Forest, Savannah, Siberian, Singapura, Somali Disease Spinal Muscular Atrophy Maine Coon Disease Sandhoff Disease Korat Disease Vitamin D Rickets Domestic Shorthair Disease Burmese Head Defect Asian, Australia Mist, Bombay, Burmese, Burmilla 41

42 An Overview of Feline Diseases & Traits The following details provide some general information (educational) on feline diseases symptoms and diagnosis. It is not intended to replace the advice of a Veterinarian. If you are concerned that your pet may be displaying any of the described signs or may be prone to one of the diseases described you should see your Veterinarian immediately. Feline Genetic Diseases Polycystic Kidney Disease Breeds: Persian and Related Breeds Polycystic Kidney Disease (PKD) is an inherited disease that affects the kidneys. It is seen in Persians, Persian-related breeds, and cats with Persian ancestry. PKD is thought to be the most prevalent inherited disease in cats, and various studies and surveys have reported between 36-49% of Persians are affected by PKD. However it is believed that this prevalence is now decreasing due to the availability of a genetic test for the disease and concerted efforts by breeders to reduce the prevalence of the disease amongst their breeding stock. PKD is transmitted as an autosomal dominant trait. This means that an affected cat inherits the disease from only one affected parent. There are no carriers as such; however the disease has variable expression, meaning some cats can be severely affected, while others may have very mild or occasionally even no clinical signs of disease. PKD is diagnosed either by ultrasound of the kidneys to demonstrate cysts, or by a DNA test to detect the presence or absence of the causative PDK1 mutation. The genetic test can be performed on young kittens, but does not give any information about the severity of the disease that they may develop. Ultrasound examination is recommended to be carried out as well as DNA testing, as there are occasionally cases of polycystic kidney disease that are not caused by the PDK1 mutation. Hypertrophic Cardiomyopathy Breeds: Maine Coon, Ragdoll Hypertrophic Cardiomyopathy (HCM) is the most common heart condition in cats, with familial (inherited) forms of the disease having been recognised in a number of breeds. The disease in cats is similar to the disease in humans, where more than 120 mutations located on 12 different genes have been shown to be able to cause HCM. Ragdolls, Persians and Maine Coons are amongst breeds with higher than normal rates of disease due to HCM. To date genetic mutations have been characterised in the Ragdoll and Maine Coon and genetic testing is available in these breeds. The mutations are different in the two different breeds, but are both located in the myosin binding protein C gene (MYBPC3). HCM may also occur in these breeds without this particular mutation (i.e. due to a different mutation). The mutations appear to be dominant genes, but with variable penetrance. Diagnosis of HCM is based on a cardiac ultrasound (echocardiogram), and should generally be performed by a specialist. There is no cure for HCM, although if thickening of the heart muscle is secondary to another disease, such as hyperthyroidism, treatment of the primary condition may resolve the cardiac condition. Treatment of HCM aims to manage signs of congestive heart failure, and reduce the abnormality of muscle relaxation as much as possible. 42

43 Spinal Muscular Atrophy Breed: Maine Coon Spinal Muscular Atrophy (SMA) is an inherited disorder that appears similar to the disease of the same name seen in humans. It is seen in Maine Coon cats, and is inherited as an autosomal recessive disorder, meaning that a copy of the mutation is passed to an affected kitten from both parents. The disease affects the nerve cells in the spinal cord that travel to skeletal muscle of the body (trunk) and legs. These nerve bodies are lost in the first few months of life, leading to weakness and wasting of the muscles of the body. Signs are generally first seen at weeks of age, and initial signs include weakness in the hind legs and a very fine tremor in the muscles. Kittens will tire easily and will develop an odd gait, with a swaying in the hindquarters. By 5 months of age they are generally too weak to jump, and examination reveals that muscles of the limbs and body are reduced in size. Progressive Retinal Atrophy Breeds: Abyssinian, Somali, Oriental Shorthair, Siamese, Cornish Rex, Bengal and Ocicatand Related Breeds Tests for both mutations CEP290 (rdac) and CRX (rdy). Progressive Retinal Atrophy (PRA) is a group of conditions that affect the retina of the eye. The retina is located at the back of the eye, and contains rods and cones, which are specialised cells that are essential for vision. All of the different forms of PRA have the same outcome - the retinal tissue gradually degenerates, leading to a progressive loss of vision. PRA is often classified by the age at which it causes vision loss, e.g. early or late onset The Abyssinian is prone to two forms of PRA. The most common form is an autosomal recessive form called rod-cone degeneration (designated rdac-pra). This is a late onset form of PRA. Degeneration of retinal cells can be detected with an ERG from around 7 months of age, and clinical signs are first detected at around 1.5 to 2 years of age. Blindness is usually complete by the age of 3 to 5 years. The Aby may also be affected by an early onset form of PRA called rod-cone dysplasia (Rdy-PRA), although this is rare. This form of PRA is dominantly inherited and occurs early in life. It can be detected on retinal examination at 8-12 weeks of age. Cats affected with this form of PRA are generally totally blind within a few months of birth. Pyruvate Kinase Deficiency Breeds: Abyssinian, Bengal, Domestic Shorthair and Longhair, Maine Coon, Norwegian Forest, Siberian, Singapura and Somali Pyruvate Kinase (PK) is an enzyme in the red blood cells that is needed for the production of energy within the cell. When there is a deficiency of this enzyme, the red blood cells cannot produce the energy they need to survive, and an affected cat will be prone to anaemia (a lack of red blood cells in the blood). Red blood cells are the oxygen carrying cells in the blood. There is a genetic test available that can detect affected and carrier cats. There is no cure for PK deficiency. Pyruvate Kinase (PK) deficiency is a recessively inherited disease, seen in Abyssinian and Somali cats, as well as domestic shorthairs. The anaemia it causes is often intermittent, so is not always detected on a one-off red cell count (a type of basic blood test). Generally an affected cat will suffer a mild anaemia, or a gradually developing anaemia that she will have time to adapt to, and so may not show any signs of disease. In these cases, although the condition is present from birth, it may not be diagnosed until the cat is quite old. 43

44 Familial Episodic Hypokalaemia Polymyopathy - Burmese Hypokalaemia Breed: Burmese This condition is a recessive condition for which the genetic mutation has been characterised and for which a genetic test is now available. Two copies of the mutation are required to cause disease, and the genetic test will determine if a cat is affected (has 2 copies), is a carrier (has 1 copy) or is clear (has no copies) of the causative mutation. This condition occurs in Burmese cats and outcrosses such as the Burmilla, Cornish and Devon Rex, and Tonkinese. This condition generally shows up in young cats (most commonly at puberty, or 3-6 months) but it can also be seen in adults. Low blood levels of K+ may not necessarily be seen at the same time as the muscle weakness, but repeated blood tests will show hypokalaemia over time. Creatine phosphokinase (CPK) is an enzyme that is elevated in the blood as an indicator of muscle damage. This enzyme is commonly elevated in the blood of affected cats. These findings (of low plasma K+ and high CPK) in a Burmese cat showing typical clinical signs helps your vet make the diagnosis of Burmese Hypokalaemia. Gangliosidosis - GM2 Breed: Burmese Gangliosidosis (GM2) is a type of lysosomal storage disease, caused by an inherited error in how lipid (fat) is metabolised within cells. Cats with gangliosidosis lack a particular enzyme that is needed to metabolise, or break down certain lipids, and this causes the lipids to build up inside cells because they cannot be excreted. Eventually this interferes with normal processes in the cell, and the cell cannot perform its normal functions anymore. Two types of Gangliosidosis are seen in cats, called GM1 gangliosidosis, which is seen in the Korat, Siamese and domestic cat, and GM2 gangliosidosis, seen in the Korat, Burmese, Abyssinian and domestic cat. Gangliosidosis causes a type of lipid (called gangliosidosis) to build up in the cells of the central nervous system (the brain) and leads to neurologic signs in affected cats. Both types are inherited as autosomal recessive, meaning for a cat to be affected she must inherit a defective gene from each of her parents. Cats with only one copy of the affected gene are not affected, but are carriers of the disease. There is no cure for Gangliosidosis, but genetic testing is available so that carrier animals may be detected. The only way to manage the disease is prevention by avoiding breeding two carrier animals together. Mucopolysaccharidosis Breeds: Ragdoll, Siamese and Related Breeds Mucopolysaccharidosis VI (MPS VI) is a type of storage disease and has been noted to affect several breeds of cat, most commonly the Siamese. It has also been seen with a higher than average frequency in the Ragdoll, apparently mainly in those with Australian ancestry. The disease is caused by the lack of an enzyme (arylsulfatase B) that normally breaks down certain cellular products, leading to the incomplete break down of glycosaminoglycan, which then accumulates within certain cells. Two forms of MPS VI have been documented in cats, a mild form, and a severe form. There are two specific genetic tests for the two types, called MPS1 and MPSM (M for the mild form). In addition, a similar disease called Mucopolysaccharidosis VII (MPS VII) occurs in a number of pure breed cats, and there is also a genetic test available for this disease (called the MPS7 test). 44

45 Glycogen Storage Disease Type IV Breed: Norwegian Forest Cat Glycogen Storage Disease IV (GSD IV) is an autosomal recessive genetic disease, and affected kittens inherit an abnormal copy of the gene that causes the disease from both of their parents. Causes severe (abnormal) levels of glycogen storage in cells. This abnormal level tends to accumulate in muscle and liver leading to progressive organ dysfunction. Both parents carry one copy of this gene, called GBE 1, and are therefore carriers of the disease. The carrier rates in the Norwegian Forest cat populations have been estimated at around 9-12% in Europe and 15% before testing began in the USA. Niemann-Pick Disease - Sphingomyelinosis Breeds: Siamese, Burmese Niemann-Pick Disease (NPD) is a type of lysosomal storage disease. Two types of NPD have been discovered in cats, Niemann-Pick Disease type A (NPA) and Niemann-Pick Disease type C (NPC).Both are due to the accumulation of certain lipid substances within storage vesicles within the cells of the body. The two types occur due to different genetic mutations, and cause slight differences in the age of onset of disease and the signs that may be seen, however there are many similarities between the two types. The genetic mutation for NPC (on the NPC1 gene) has been characterised in cats. Niemann-Pick Disease is seen in the Siamese and domestic cat, and has been documented occasionally in other breeds, such as the Balinese. 45

46 Feline Genetic Traits Blood Group All Breeds Tests for the AB blood group (major blood group) in domestic cats. Types A and B are considered to be the most common with AB considered to the rare group. If a cat is tested as Group A (nonb/nonb) and is dominant to B so therefore is the most common. Type A cats can be AA, Aa or Ab whereas Type B (b/b) will always be bb. The following breeds - Siamese, Burmese, Russian Blue, Ocicat and Oriental Shorthair can only be Type A that is, do not have Type B. Type B is seen more frequently in British Shorthair, Cornish Rex and Devon Rex. White Gloves Breed: Birman Tests for the pattern associated with the white feet pattern associated with the breed. This mutation is fixed in Birman, so all Birmans must have 2 copies of this gene. Autosomal recessive trait 2 copies required to express the phenotype. Also referred to as mittens and is very common in most cat breeds. Agouti All Breeds Tests for the Agouti Signaling Protein ASIP Results are reported as aa (non agouti) and all aa catsare solid (self) in colour. Tests for solid or banded colouration. Agouti (AA or Aa) also referred to as tabby. Homozygous for the A Locus (AA) the cat will exhibit banded (agouti) hair. If the cat is aa (non-agouti) it will exhibit solid colouration. Agouti is your typical hair colour found in many wild animals. Albinism Breeds: Siamese, Burmese Tests for the C Locus associated with the gene. Albino cats are homozygous (cc) for the mutation. The C locus is responsible for white cats with blue eyes. Is associated with deafness. There are some cases where some cats are not completely albino and tend to have one eye pigmented referred to as odd-eyed. There is an association with the W gene and this gene has yet to be identified. Amber Breed: Norwegian Forest Cat Tests for the MC1R mutation. If you test as ee (amber) Tests for amber/red colour to orange. Autosomal recessive mode of inheritance. There are 3 types of genotypes for this mutataion reported as EE (no copy of the Amber gene or Amber colouration is present) Ee one copy of the gene for Amber and ee has to copies of the gene variant required for amber colour. 46

47 Brown/Chocolate/Cinnamon All Breeds Testing for lilac the B (tyrosinase-related protein-1, TYRP1) Allele. If a cat tests as bb (has two copies of the chocolate gene) then it will be chocolate coat colour. The brown and cinnamon colour is autosomal recessively inherited colour, i.e. the phenotype comes to expression only in cats which inherited these b-alleles from their parents. A cat with genotype b/b has a chocolate-brown colour and a cat of genotype b l /b l has a light brown (cinnamon) colour. A cat with with B/B genotype transmits neither b-allele (for chocolate colour) nor b l -allele (for cinnamon colour) A cat with B/b genotype is a carrier of b-allele b (chocolate), A cat with B/b l -genotype is a carrier of b l -allele (cinnamon), a cat with b/b-genotype with chocolate-brown colour (homozygous for chocolate allele - this individual always passes this allele on to its offspring). A cat with b/b l -genotype with chocolate-brown colour is a carrier of bl-allele (cinnamon). A cat with b l /b l -genotype with cinnamon colour (homozygous for cinnamon allele - this individual always passes this allele on to its offspring). Coloured Points (points) Breeds: Burmese/Siamese Refers to a cats coat colour associated with a pale body and darker extremities eg. Siamese. Interestingly the gene is carried on the C locus the same gene where albinism is seen together with the same locus as where we see the gene responsible for the sepia pattern. If a cat tests as CC then it is full colour does not carry any Burmese (sepia) or then the cat is Burmese (sepia) Siamese alleles. cs/cs is Siamese. cb/ cb then the cat is Burmese (sepia). Dilution All Breeds Dilutes black pigment to blue/grey. The gene responsible for colour dilution is referred to as MLPH and is responsible for diluting the black (eumelanin) pigment and is seen in over 25 cat breeds. Black is diluted to grey. Some breeds are fixed for dilute - Cartesian, Russian Blue, Korat and Chartreux these cats are always dd. These cats carry d/d-genotype of D-locus (Dilution).Results are NORMAL DD does not carry blue, CARRIER Dd carries one copy of the blue (does not show the phenotype) and AFFECTED dd colour is diluted. If a cat tests as bb and dd this will result in a lilac colour as seen in British SH/LH. If an orange cats tests as dd then it will be cream, if a chocolate cat bb tests dd then it will be a pale brown. Long Hair/Short Hair All Breeds Tests for all 4 mutations According to Kehler et al., four mutations in FGF5 gene were identified that cause a cat to have long hair M1(c.356insT), M2 (c.406c>t), M3 (c.474delt) and M4(c.475A>C). Cats that carry two copies of the same mutation (recessive homozygote) or two different mutations of these four mutations (compound heterozygote) have long hair. The mutation M4 was identified in long-haired cats of all breeds involved in the study, the mutations M1, M2 and M3 are specific for some breed types. The M1 mutation was found in Ragdoll breed. The M2 mutation is prevalent in Norwegian Forest cats and the M3 mutation was identified in Ragdoll breed and Maine Coon cats. STATEMENT on FELINE COLOUR TESTING: Please note that feline coat colour cannot be determined by DNA test alone. There are a number of genes that cannot be determined via genetics and influence colour. These include the O Gene (Orange/Red), the W Gene (dominant White), the Silver Gene and the S Gene (Spotting). To determine the coat colour of a cat, the genetic information, pedigree and a photo of the cat tested is required. 47

48 Feline Coat Colour Please note Feline coat colour cannot be determined by a DNA test alone. There are a number of genes that cannot be determined via genetics and influence coat colour. These include the O (orange/red) gene, the W (dominant white) gene, the Silver gene and the S (spotting) gene. To determine the coat colour of a cat the genetic information, pedigree and a photo of the cat tested is required. The nomenclature used to report traits may vary from laboratory to laboratory. In general all results are reported as NORMAL (does not carry the mutation), CARRIER (carries one copy) or AFFECTED (has two copies). All affected animals will show that trait. The nomenclature used below is that as established and recognised internationally. Dilute (Black to Grey/Blue; Orange/Red to Cream) MLPH gene c.83delt mutation Reference: Ishida Y, David VA, Eizirik E, et al. A homozygous single-base deletion in MLPH causes the dilute coat colour phenotype in the domestic cat. Genomics. Jul Result d/d Dilute D/d Carrier of Dilute D/D Does not carry Dilute Interpretation Breeding Outcomes Has two copies of the dilute allele (d/d). Coat colour is diluted as follows: Black is diluted to Blue / Chocolate is diluted to Lilac / Cinnamon is diluted to Fawn / Red is diluted to Cream. Has one copy of the Dilute allele (D/d) cat is a Carrier of dilute. No dilution of coat colour. May produce a dilute off spring if mated with another carrier. Has no copies of the Dilute allele (D/D) the cat is full colour. No dilution of coat colour. Will not produce any dilute offspring. Agouti (Banded Hair to Solid) ASIP gene c.122_123delca Mutation Reference: Eizirik E, Yuhki N, Johnson WE, Menotti-Raymond M, Hannah SS, O Brien SJ. Molecular genetics and evolution of melanism in the cat family. Curr Biol. Mar ;13(5): Result A/A Agouti A/a Carrier of non Agouti a/a non Agouti Interpretation Breeding Outcomes Has two copies of the Agouti gene (A/A). Cat will have agouti banded hair. All offspring will have agouti or banded hair. Has one copy of the Agouti gene and one copy of the non-agouti gene (A/a). Cat will have agouti banded hair and offspring can be agouti or non-agouti depending on the genetics of the breeding pair. Has two copies of the non-agouti gene (a/a). Cat will have solid colouration. If this cat is bred to a non-agouti then only non-agouti offspring will be produced. 48

49 Amberamber/Extension (Brown/Red colour variant) MC1R gene c.250g>a Reference: Peterschmitt M, Grain F, Arnaud B, Deleage G, Lambert V. Mutation in the melanocortin 1 receptor is associated with amber colour in the Norwegian Forest Cat. Animal Genet. Aug 2009;40(4): Result e/e Amber E/a Carrier of Amber E/E Does not carry Amber Interpretation Breeding Outcomes Has two copies of the Amber mutation (e/e). Cat will have Amber colouration (in the absence of Orange). Has one copy of the Amber mutation (E/e). Cat will not have Amber colouration. Has no copies of the Amber mutation (E/E). Cat will not have Amber colouration. Brown (Chocolate and Cinnamon) TYRP1 gene b=c.8>g/bl = c.298c>t Reference: Lyons LA, Foe IT, Rah HC, Grahn RA. Chocolate coated cats: TYRP1 mutations for brown colour in domestic cats. Mamm Genome. May 2005;16(5): Schmidt-Kuntzel A, Eizirik E, O Brien SJ, Menotti-Raymond M. Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat colour phenotypes of the albino and brown loci. J Hered. Jul-Aug 2005;96(4): Result b/b Chocolate B/b Carrier of Amber B/B Does not carry Amber b l /b l Cinnamon B/b l or b/b l Carrier of Cinnamon B/B, B/b or b/b Does not carry Cinnamon Interpretation Breeding Outcomes Has two copies of the Chocolate allele (b/b). Cat is Chocolate (Brown). Has one copy of the Chocolate allele (B/b). Full colour or possibly Chocolate if the cat also carries Cinnamon. Full colour cat does not carry Brown or Cinnamon alleles. Has no copies of the Chocolate allele (B/B). Has two copies of the Cinnamon allele (b l / b l ). Cat is Cinnamon. Has one copy of the Cinnamon allele (B/b l or b/b l ). Full colour or possibly Chocolate if the cat also carries Chocolate. Full colour Has no copies of the Cinnamon allele (B/B, B/b or b/b). Full colour or possibly Chocolate. 49

50 Colourpoint Restriction (Burmese and Siamese colour pattern) TYR gene cb = c.715g>t, cs = c.940g>a, c = c.975delc Reference: Schmidt-Kuntzel A, Eizirik E, O Brien SJ, Menotti-Raymond M. Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat colour phenotypes of the albino and brown loci. J Hered. Jul-Aug 2005;96(4): Imes DL, Geary LA, Grahn RA, Lyons LA. Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Animal Genet. Apr 2006;37(2): Lyons LA, Imes DL, Rah HC, Grahn RA. Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). Animal Genet. Apr 2005;36(2): Result CC No colourpoint C/c b Carrier of Burmese colour C/c s Carrier of Siamese colourpoint restriction Interpretation Breeding Outcomes Full colour. The cat does not carry any Burmese (sepia) or Siamese alleles. Full Colour. Has one copy of the Burmese (sepia) colour. Carries the C/c b gene. If mated with another carrier of Burmese colour MAY produce a Burmese kitten. Full colour. Has one copy of the Siamese colourpoint restriction. Carries the C/c s gene. If mated with another carrier of Siamese colourpoint MAY produce a Siamese kitten. c b / c b Cat is Burmese (sepia). All offspring will be at least carriers of Burmese c b. c s / c s Cat is Siamese. All offspring will be at least carriers of Burmese c s. c b / c s Mink, cat has an intermediate colour between Burmese and Siamese. White Gloves White feet/birman pattern KIT gene Result N/N No glove pattern N/G Carrier of gloving pattern G/G Gloves are present Interpretation Breeding Outcomes The cat is normal for the mutation and does not have any of the Birman gloving mutation. Will NOT produce any gloving offspring. Has one copy of the gloving mutation. Carrier for the mutation if mated with another carrier MAY produce a gloving pattern kitten. Has two copies of the gloving pattern. Cat will have gloving pattern. Albinism Result N/N No albino gene A/N Carrier of albino gene A/A Cat is albino Interpretation Breeding Outcomes The cat is normal for the mutation and does not have any of the Birman gloving mutation. Will NOT produce any gloving offspring. Has one copy of the gloving mutation. Carrier for the mutation if mated with another carrier MAY produce a gloving pattern kitten. Has two copies of the gloving pattern. Cat will have gloving pattern. 50

51 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard Note: AA - agouti, does not identify specific tabby patterns such as Classic, Mackerel, Spotted, Ticked, Tipped, Shaded DD BB AA C/C Black (aka Brown) tabby DD Bb AA C/C Black (aka Brown) tabby (carrying chocolate) DD bb AA C/C Chocolate tabby DD B/b l AA C/C Black (aka Brown) tabby (carrying cinnamon) DD b/b l AA C/C Chocolate tabby (carrying cinnamon) DD b l /b l AA C/C Cinnamon tabby Dd BB AA C/C Black (aka Brown) tabby (carrying dilute) Dd Bb AA C/C Black (aka Brown) tabby (carrying chocolate & dilute) Dd bb AA C/C Chocolate tabby (carrying dilute) Dd B/b l AA C/C Black (aka Brown) tabby (carrying cinnamon & dilute) Dd b/b l AA C/C Chocolate tabby (carrying dilute & cinnamon) Dd b l /b l AA C/C Cinnamon tabby (carrying dilute) dd BB AA C/C Blue tabby dd Bb AA C/C Blue tabby (carrying chocolate) dd bb AA C/C Lilac tabby dd B/b l AA C/C Blue tabby (carrying cinnamon) dd b/b l AA C/C Lilac tabby (carrying cinnamon) dd b l /b l AA C/C Fawn tabby DD BB AA c s /c s Seal tabby (lynx) pointed DD Bb AA c s /c s Seal tabby (lynx) pointed (carrying chocolate) DD bb AA c s /c s Chocolate tabby (lynx) pointed DD B/b l AA c s /c s Seal tabby (lynx) pointed (carrying cinnamon) DD b/b l AA c s /c s Chocolate tabby (lynx) pointed (carrying cinnamon) DD b l /b l AA c s /c s Cinnamon tabby (lynx) pointed Dd BB AA c s /c s Seal tabby (lynx) pointed (carrying dilute) Dd Bb AA c s /c s Seal tabby (lynx) pointed (carrying chocolate & dilute) Dd bb AA c s /c s Chocolate tabby (lynx) pointed (carrying dilute) Dd B/b l AA c s /c s Seal tabby (lynx) pointed (carrying dilute &cinnamon) Dd b/b l AA c s /c s Chocolate tabby (lynx) pointed (carrying dilute &cinnamon) Dd b l /b l AA c s /c s Cinnamon tabby (lynx) pointed (carrying dilute) 51

52 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard dd BB AA c s /c s Blue tabby (lynx) pointed dd Bb AA c s /c s Blue tabby (lynx) pointed (carrying chocolate) dd bb AA c s /c s Lilac tabby (lynx) pointed dd B/b l AA c s /c s Blue tabby (lynx) pointed (carrying cinnamon) dd b/b l AA c s /c s Lilac tabby (lynx) pointed (carrying cinnamon) dd b l /b l AA c s /c s Fawn tabby (lynx) pointed Note: c b /c b - Sepia, also known as Burmese expression DD BB AA c b /c b Brown sepia tabby also known as Seal sepia tabby DD Bb AA c b /c b Brown (aka Seal) sepia tabby (carrying chocolate) DD bb AA c b /c b Chocolate sepia tabby DD B/b l AA c b /c b Brown (aka Seal) sepia tabby (carrying cinnamon) DD b/b l AA c b /c b Chocolate sepia tabby (carrying cinnamon) DD b l /b l AA c b /c b Cinnamon sepia tabby; Australian Mist descriptions may call this Gold Dd BB AA c b /c b Brown (aka Seal) sepia tabby (carrying dilute) Dd Bb AA c b /c b Brown (aka Seal) sepia tabby (carrying chocolate & dilute) Dd bb AA c b /c b Chocolate sepia tabby (carrying dilute) Dd B/b l AA c b /c b Brown (aka Seal) sepia tabby (carrying dilute & cinnamon) Dd b/b l AA c b /c b Chocolate sepia tabby (carrying dilute &cinnamon) Dd b l /b l AA c b /c b Cinnamon sepia tabby (carrying dilute) dd BB AA c b /c b Blue sepia tabby dd Bb AA c b /c b Blue sepia tabby (carrying chocolate) dd bb AA c b /c b Lilac sepia tabby dd B/b l AA c b /c b Blue sepia tabby (carrying cinnamon) dd b/b l AA c b /c b Lilac sepia tabby (carrying cinnamon) dd b l /b l AA c b /c b Fawn sepia tabby; Australian Mist descriptions may call this Peach DD BB AA c b /c s Seal mink tabby DD Bb AA c b /c s Seal mink tabby (carrying chocolate) DD bb AA c b /c s Chocolate mink tabby DD B/b l AA c b /c s Seal mink tabby (carrying cinnamon) DD b/b l AA c b /c s Chocolate mink tabby (carrying cinnamon) DD b l /b l AA c b /c s Cinnamon mink tabby 52

53 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard Dd BB AA c b /c s Seal mink tabby (carrying dilute) Dd Bb AA c b /c s Seal mink tabby (carrying chocolate & dilute) Dd bb AA c b /c s Chocolate mink tabby (carrying dilute) Dd B/b l AA c b /c s Seal mink tabby (carrying dilute & cinnamon) Dd b/b l AA c b /c s Chocolate mink tabby (carrying dilute & cinnamon) Dd b l /b l AA c b /c s Cinnamon mink tabby (carrying dilute) dd BB AA c b /c s Blue mink tabby dd Bb AA c b /c s Blue mink tabby (carrying chocolate) dd bb AA c b /c s Lilac mink tabby dd B/b l AA c b /c s Blue mink tabby (carrying cinnamon) dd b/b l AA c b /c s Lilac mink tabby (carrying cinnamon) dd b l /b l AA c b /c s Fawn mink tabby Note: Aa - agouti (carrying non-agouti), does not identify specific tabby patterns such as Classic, Mackerel, Spotted, Ticked, Tipped, Shaded DD BB Aa C/C Black (aka Brown)tabby (carrying non-agouti) DD Bb Aa C/C Black (aka Brown) tabby (carrying chocolate & non-agouti) DD bb Aa C/C Chocolate tabby (carrying non-agouti) DD B/b l Aa C/C Black (aka Brown) tabby (carrying cinnamon & non agouti) DD b/b l Aa C/C Chocolate tabby (carrying cinnamon & non-agouti) DD b l /b l Aa C/C Cinnamon tabby (carrying non-agouti) Dd BB Aa C/C Black (aka Brown) tabby (carrying dilute & non agouti) Dd Bb Aa C/C Black (aka Brown) tabby (carrying chocolate, dilute & non agouti) Dd bb Aa C/C Chocolate tabby (carrying dilute & non -agouti) Dd B/b l Aa C/C Black (aka Brown) tabby (carrying cinnamon, dilute & non agouti) Dd b/b l Aa C/C Chocolate tabby (carrying dilute,cinnamon & non agouti) Dd b l /b l Aa C/C Cinnamon tabby (carrying dilute & non agouti) dd BB Aa C/C Blue tabby (carrying agouti) dd Bb Aa C/C Blue tabby (carrying chocolate & non -agouti) dd bb Aa C/C Lilac tabby (carrying non-agouti) dd B/b l Aa C/C Blue tabby (carrying cinnamon & non agouti) dd b/b l Aa C/C Lilac tabby (carrying cinnamon & non-agouti) dd b l /b l Aa C/C Fawn tabby (carrying non-agouti) 53

54 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard DD BB Aa c s /c s Seal tabby (lynx) pointed (carrying non agouti) DD Bb Aa c s /c s Seal tabby (lynx) pointed (carrying chocolate & non agouti) DD bb Aa c s /c s Chocolate tabby (lynx) pointed (carrying non agouti) DD B/b l Aa c s /c s Seal tabby (lynx) pointed (carrying cinnamon & non agouti) DD b/b l Aa c s /c s Chocolate tabby (lynx) pointed (carrying cinnamon & non agouti) DD b l /b l Aa c s /c s Cinnamon tabby (lynx) pointed ( carrying non agouti) Dd BB Aa c s /c s Seal tabby (lynx) pointed (carrying dilute & non agouti) Dd Bb Aa c s /c s Seal tabby (lynx) pointed (carrying chocolate, dilute & non agouti) Dd bb Aa c s /c s Chocolate tabby (lynx) pointed (carrying dilute & non agouti) Dd B/b l Aa c s /c s Seal tabby (lynx) pointed (carrying dilute, cinnamon & non agouti) Dd b/b l Aa c s /c s Chocolate tabby (lynx) pointed (carrying dilute, cinnamon & non agouti) Dd b l /b l Aa c s /c s Cinnamon tabby (lynx) pointed (carrying dilute & non agouti) dd BB Aa c s /c s Blue tabby (lynx) pointed ( carrying non agouti) dd Bb Aa c s /c s Blue tabby (lynx) pointed (carrying chocolate & non agouti) dd bb Aa c s /c s Lilac tabby (lynx) pointed ( carrying non agouti) dd B/b l Aa c s /c s Blue tabby (lynx) pointed (carrying cinnamon & non agouti) dd b/b l Aa c s /c s Lilac tabby (lynx) pointed (carrying cinnamon & non agouti) dd b l /b l Aa c s /c s Fawn tabby (lynx) pointed ( carrying non agouti) Note: cb/cb - Sepia, also known as Burmese expression DD BB Aa c b /c b Brown sepia tabby also known as Seal sepia tabby (carrying non agouti) DD Bb Aa c b /c b Brown sepia (aka Seal) tabby (carrying chocolate & non agouti) DD bb Aa c b /c b Chocolate sepia tabby (carrying non agouti) DD B/b l Aa c b /c b Brown sepia (aka Seal) tabby (carrying cinnamon & non agouti) DD b/b l Aa c b /c b Chocolate sepia tabby (carrying cinnamon & non agouti) DD b l /b l Aa c b /c b Cinnamon sepia tabby (carrying non agouti) Dd BB Aa c b /c b Brown sepia (aka Seal) tabby (carrying dilute & non agouti) Dd Bb Aa c b /c b Brown sepia (aka Seal) tabby (carrying chocolate, dilute & non agouti) Dd bb Aa c b /c b Chocolate sepia tabby (carrying dilute & non agouti) Dd B/b l Aa c b /c b Brown sepia (aka Seal) tabby (carrying dilute, cinnamon & non agouti) Dd b/b l Aa c b /c b Chocolate sepia tabby (carrying dilute, cinnamon & non agouti) Dd b l /b l Aa c b /c b Cinnamon sepia tabby (carrying dilute & non agouti) 54

55 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard dd BB Aa c b /c b Blue sepia tabby (carrying non agouti) dd Bb Aa c b /c b Blue sepia tabby (carrying chocolate & non agouti) dd bb Aa c b /c b Lilac sepia tabby (carrying non agouti) dd B/b l Aa c b /c b Blue sepia tabby (carrying cinnamon & non agouti) dd b/b l Aa c b /c b Lilac sepia tabby (carrying cinnamon & carrying non agouti) dd b l /b l Aa c b /c b Fawn sepia tabby (carrying non agouti) DD BB Aa c b /c s Seal mink tabby (carrying non agouti) DD Bb Aa c b /c s Seal mink tabby (carrying chocolate & non agouti) DD bb Aa c b /c s Chocolate mink tabby (carrying non agouti) DD B/b l Aa c b /c s Seal mink tabby (carrying cinnamon & non agouti) DD b/b l Aa c b /c s Chocolate mink tabby (carrying cinnamon & non agouti) DD b l /b l Aa c b /c s Cinnamon mink tabby (carrying non agouti) Dd BB Aa c b /c s Seal mink tabby (carrying dilute & non agouti) Dd Bb Aa c b /c s Seal mink tabby (carrying chocolate, dilute & non agouti) Dd bb Aa c b /c s Chocolate mink tabby (carrying dilute & non agouti) Dd B/b l Aa c b /c s Seal mink tabby (carrying dilute, cinnamon & non agouti) Dd b/b l Aa c b /c s Chocolate mink tabby (carrying dilute, cinnamon & non agouti) Dd b l /b l Aa c b /c s Cinnamon mink tabby (carrying dilute & non agouti) dd BB Aa c b /c s Blue mink tabby (carrying non agouti) dd Bb Aa c b /c s Blue mink tabby (carrying chocolate & non agouti) dd bb Aa c b /c s Lilac mink tabby (carrying non agouti) dd B/b l Aa c b /c s Blue mink tabby (carrying cinnamon & non agouti) dd b/b l Aa c b /c s Lilac mink tabby (carrying cinnamon & carrying non agouti) dd b l /b l Aa c b /c s Fawn mink tabby (carrying non agouti) Note: aa - non agouti, some breed standards refer to this as solid or self DD BB aa C/C Black DD Bb aa C/C Black (carrying chocolate) DD bb aa C/C Chocolate DD B/b l aa C/C Black (carrying cinnamon) DD b/b l aa C/C Chocolate (carrying cinnamon) DD b l /b l aa C/C Cinnamon 55

56 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard Dd BB aa C/C Black (carrying dilute) Dd Bb aa C/C Black (carrying chocolate & dilute) Dd bb aa C/C Chocolate (carrying dilute) Dd B/b l aa C/C Black (carrying cinnamon & dilute) Dd b/b l aa C/C Chocolate (carrying dilute & cinnamon) Dd b l /b l aa C/C Cinnamon (carrying dilute) dd BB aa C/C Blue dd Bb aa C/C Blue(carrying chocolate) dd bb aa C/C Lilac dd B/b l aa C/C Blue (carrying cinnamon) dd b/b l aa C/C Lilac (carrying cinnamon) dd b l /b l aa C/C Fawn DD BB aa c s /c s Seal pointed DD Bb aa c s /c s Seal pointed (carrying chocolate) DD bb aa c s /c s Chocolate pointed DD B/b l aa c s /c s Seal pointed (carrying cinnamon) DD b/b l aa c s /c s Chocolate pointed (carrying cinnamon) DD b l /b l aa c s /c s Cinnamon pointed Dd BB aa c s /c s Seal pointed (carrying dilute) Dd Bb aa c s /c s Seal pointed (carrying chocolate & dilute) Dd bb aa c s /c s Chocolate pointed (carrying dilute) Dd B/b l aa c s /c s Seal pointed (carrying dilute & cinnamon) Dd b/b l aa c s /c s Chocolate pointed (carrying dilute & cinnamon) Dd b l /b l aa c s /c s Cinnamon pointed (carrying dilute) dd BB aa c s /c s Blue pointed dd Bb aa c s /c s Blue pointed (carrying chocolate) dd bb aa c s /c s Lilac pointed dd B/b l aa c s /c s Blue pointed (carrying cinnamon) dd b/b l aa c s /c s Lilac pointed (carrying cinnamon) dd b l /b l aa c s /c s Fawn pointed 56

57 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Note: cb/cb - Sepia, also known as Burmese expression DD BB aa c b /c b Brown sepia also known as 'Seal sepia' DD Bb aa c b /c b Brown (aka Seal) sepia (carrying chocolate) DD bb aa c b /c b Chocolate sepia DD B/b l aa c b /c b Brown (aka Seal) sepia (carrying cinnamon) DD b/b l aa c b /c b Chocolate sepia (carrying cinnamon) DD b l /b l aa c b /c b Cinnamon sepia Dd BB aa c b /c b Brown (aka Seal) sepia (carrying dilute) Dd Bb aa c b /c b Brown (aka Seal) sepia (carrying chocolate & dilute) Dd bb aa c b /c b Chocolate sepia (carrying dilute) Dd B/b l aa c b /c b Brown (aka Seal) sepia (carrying dilute & cinnamon) Dd b/b l aa c b /c b Chocolate sepia (carrying dilute & cinnamon) Dd b l /b l aa c b /c b Cinnamon sepia (carrying dilute) dd BB aa c b /c b Blue sepia dd Bb aa c b /c b Blue sepia (carrying chocolate) dd bb aa c b /c b Lilac sepia dd B/b l aa c b /c b Blue sepia (carrying cinnamon) dd b/b l aa c b /c b Lilac sepia (carrying cinnamon) dd b l /b l aa c b /c b Fawn sepia DD BB aa c b /c s Seal mink; also known as Natural mink in Tonkinese DD Bb aa c b /c s Seal (aka Natural) mink (carrying chocolate) DD bb aa c b /c s Chocolate mink; also known as Champagne mink in Tonkinese DD B/b l aa c b /c s Seal (aka Natural) mink (carrying cinnamon) DD b/b l aa c b /c s Chocolate mink (carrying cinnamon) DD b l /b l aa c b /c s Cinnamon mink Dd BB aa c b /c s Seal (aka Natural) mink (carrying dilute) Dd Bb aa c b /c s Seal (aka Natural) mink (carrying chocolate & dilute) Dd bb aa c b /c s Chocolate mink (carrying dilute) Dd B/b l aa c b /c s Seal (aka Natural) mink (carrying dilute & cinnamon) Dd bb l aa c b /c s Chocolate mink (carrying dilute & cinnamon) Dd b l /b l aa c b /c s Cinnamon mink (carrying dilute) Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard 57

58 Feline Genetic Coat Colour Pattern What colour is my Cat? Dilute Black/Chocolate/Cinnamon Agouti Colourpoint Restriction Genetic Colour and Pattern provided there are no other active colour and/or pattern genes present eg Silver; Golden; Tipped; Shaded; Ticked; sex-linked Red, Cream, Tortoiseshell; White; White Spotting aka Bicolour, Van, Mitted; Gloves; Amber; Dilute modifier; Charcoal agouti allele and other yet to be determined alleles from Asian Leopard dd BB aa c b /c s Blue mink dd Bb aa c b /c s Blue mink (carrying chocolate) dd bb aa c b /c s Lilac mink; also known as Platinum mink in Tonkinese dd B/b l aa c b /c s Blue mink (carrying cinnamon) dd b/b l aa c b /c s Lilac mink (carrying cinnamon) dd b l /b l aa c b /c s Fawn mink 58

59 Feline LHG Results M1 Mutation is present in Ragdolls M2 Mutation is present in Norwegian Forest Cats M3 Mutation is present in Maine Coons and Ragdolls M4 Mutation is present in all breeds that have long hair including all of the above Mode of Inheritance: Autosomal Recessive PLEASE NOTE: All 4 mutations are run with any Long Hair Gene test request NN = none of the 4 long hair mutations detected cat cannot produce any long-haired off spring. N/M1 = one copy of the long hair mutation cat can produce a long haired off spring depending on genotype of the mate. N/M2 = one copy of the long hair mutation cat can produce a long haired off spring depending on genotype of the mate. N/M3 = one copy of the long hair mutation cat can produce a long haired off spring depending on genotype of the mate. N/M4 = one copy of the long hair mutation cat can produce a long haired off spring depending on genotype of the mate. M1/M1 = two copies of the LHG present (cat has long hair) cat will produce LHG ONLY off spring if mated to a long hair cat. M2/M2 = two copies of the LHG present (cat has long hair) cat will produce LHG ONLY off spring if mated to a long hair cat. M3/M3 = two copies of the LHG present (cat has long hair) cat will produce LHG ONLY off spring if mated to a long hair cat. M4/M4 = two copies of the LHG present (cat has long hair) cat will produce LHG ONLY off spring if mated to a long hair cat. M1/M2 = cat carries the two different long hair mutations (cat has long hair) also referred to as a compound heterozygote. Cat will produce LHG ONLY offspring if mated to another LHG cat. M1/M3 = cat carries the two different long hair mutations (cat has long hair) also referred to as a compound heterozygote. Cat will produce LHG ONLY offspring if mated to another LHG cat. M1/M4 = cat carries the two different long hair mutations (cat has long hair) also referred to as a compound heterozygote. Cat will produce LHG ONLY offspring if mated to another LHG cat. M2/M3 = cat carries the two different long hair mutations (cat has long hair) also referred to as a compound heterozygote. Cat will produce LHG ONLY offspring if mated to another LHG cat. M2/M4 = cat carries the two different long hair mutations (cat has long hair) also referred to as a compound heterozygote. Cat will produce LHG ONLY offspring if mated to another LHG cat. M3/M4 = cat carries the two different long hair mutations (cat has long hair) also referred to as a compound heterozygote. Cat will produce LHG ONLY offspring if mated to another LHG cat. 59

60 Feline Blood Groups Transfusions The main thing is you have to give the cat the same blood group as it has if a cat is Blood Group A it MUST get the Blood Group A, if it is Blood Group B it MUST get Blood Group B, as A blood will kill the cat fairly quickly. If a cat is a Blood Group AB (which is rare) they can receive blood from any cat, as they have no A or B antibodies this is only for the first transfusion, after this, you must crossmatch this really applies to all cats. Genetics and Breeding Decisions The genetic test is not much use for emergency medicine and transfusions, although if a cat is B this would be very handy to know if the cat has haemolytic anaemia, as the agglutination makes the bench top ELIZA test for blood type harder to read. The main point of this test in genetics is that you do not want to breed a Blood Group B mum to a Blood Group A tom you can get neonatal isoerythrolysis in the kittens if they inherit Type A bloodtype from their sire, as they absorb mum s anti-a antibodies from the colostrum and their red blood cells will react with these antibodies, and in effect explode. The haemolytic crisis that occurs can be fatal. Genetic Results are reported as: Type A (non-b/non-b) Type B (b/b) Type AB (b/non-b) Indeterminable cats have a low level of anti-b antibodies cats have a HIGH level of anti-a antibodies cats have no antibodies to A or B genetic result is inconclusive So only breed a Blood Group B mum to a Blood Group B tom. Or (if you ever see one) an AB tom do not breed to an A type tom. If a cattery does not have Blood Group B toms, then you can screen young queens and do not use Blood Group B queens in breeding program. Indeterminable is seen in around 2-3% of cases, this result is obtained when the genetic result is inconclusive and the status of the B blood group cannot be genetically determined (additional mutation present that has not been identifi ed). It is recommended that any such cases get serology performed on these cats to obtain a conclusive result. All indeterminable genetic results are repeated. The Australian Vet Experience Unlike the overseas literature, from what vets tend to see in a clinic, Orientals seem to have higher incidence of B type than domestics in Australia (Siamese and Burmese). Most vets do not see enough other breeds with IMHA to really say how common the B type is. Some vets only see one AB type ever. Around 60-70% general domestic population in Australia is Type A (non-b/non-b), 25-35% is Type B (b/b) and 1% approx is Type AB (b/ non-b). 60

61 Cat Blood Groups - Overview One of the main issues surrounding blood groups is the terminology used by different laboratories. This can cause confusion amongst breeders. Hopefully all laboratories can get together to try to standardise the terminology used. Here are some important facts on cat blood groups facts that we can definitely conclude. b/b = TYPE B All we can determine is what the mutation(s) that makes a cat Type B (bb). Cats with Type B present concern with neonatal isoerythrolysis. Therefore this is a cat that does not have the b mutation (currently not much is known what it is) and generally we assume it is Type A, however there is also Type AB. The genetic test cannot distinguish between Type A and Type AB blood types. The main thing that this result tells you is that the cat carries the B gene, and so if mated to another cat carrying the B gene (e.g. another type A cat carrying the B gene, or A/b) then blood Type B kittens may be produced. nonb/b (also referred to as N/b) - we know that this is a cat carrying Type B - can be either A/b or AB/b. nonb/nonb = TYPE A (also referred to as N/N) We know that this cat could be A/A or Ab/Ab or A/AB. TYPE AB (Indeterminable/Discordant) - the only way to truly define this blood group is to carry out serology/agglutination test. The cat may be a Type AB blood type, however this is very rare and the inheritance and expression of this is complex. Type A is dominant to Type B (b) so an A/b result means the cat is Type A blood group carrying the B gene. 61

62 Feline Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy (HCM) is an inherited disease of cats which appears to be similar to the disease seen in humans. In humans many diff erent mutations have been found that cause HCM and it is thought that there are over 400 separate causative mutations in people. HCM is a disease where the heart muscle becomes severely thickened and cannot function properly. This can lead to signs of congestive heart failure, thromboembolic disease ( throwing clots) or sudden death without previous signs. HCM can sometimes be detected at your cat s regular veterinary check-up if a murmur or abnormal heart rhythm is present, but an ultrasound of the heart (echocardiograph) is required for diagnosis and to document the severity of the disease. Mode of Inheritance: HCM is an autosomal dominant disease, which means a cat only needs one copy of the mutation to be affected. It has variable penetrance and expression, which means the age of onset of disease and the severity of disease can vary quite a lot. It does tend to be a disease seen in adult cats (the average age of onset is 8-9 years). The Genetic Test There are two tests (mutations) available for hypertrophic cardiomyopathy. One is for the (A31P) mutation in Maine Coon cats; the other is for the (C820T) mutation of Ragdoll cats. Both mutations occur on the cardiac myosin binding protein C gene (MYBPC3), which codes for part of the contractile protein within the heart muscle cells. Interpreting the genetic results Maine Coon Normal/clear/negative: Your cat does not carry the mutation and is unaffected. Affected heterozygous/affected (1 copy): Your cat carries one copy of the mutation and is affected. Your cat may or may not develop HCM and should have regular monitoring cardiac ultrasounds. Most Maine Coons with one copy do not go on to develop HCM. Affected/positive/homozygous (2 copies): Your cat carries two copies of the mutation and is affected. It is more likely that your cat will develop HCM. Your cat should have regular cardiac ultrasounds. Interpreting the genetic results Ragdoll Normal/clear/negative: Your cat does not carry the mutation and is unaffected. Affected heterozygous/affected (1 copy): Your cat carries one copy of the mutation and is affected. Your cat may or may not develop HCM and should have regular monitoring cardiac ultrasounds. Most Ragdolls with one copy do not go on to develop HCM. Affected/positive /homozygous (2 copies): Your cat carries two copies of the mutation and is affected. It is more likely your cat will develop a severe form of the disease. Disease is likely to occur at an early age (1-2 years) in homozygous individuals. Note that the Ragdoll is prone to an early onset form of HCM when an individual inherits two copies of the (C820T) mutation. This form of the disease tends to almost always be severe, with an age of onset between 1-2 years of age and most cats succumb by the age of 5. Ragdolls with one copy of the mutation tend to have the adult onset of the disease, similar to that seen in the Maine Coon and others. Also note that a Normal/Clear result does not mean a cat will not develop HCM. There is at least one other gene mutation suspected in the Maine Coon. The genetic test is only testing for one specifi c mutation that is causative of HCM. It is recommended all breeding animals undergo regular cardiac ultrasound examination as well. 62

63 Breeding Recommendations for Reducing the Prevalence of HCM: 1. Genetic testing should be undertaken for all breeding animals. 2. Never breed a cat that gives a result Affected Homozygous - all progeny will be carriers. 3. Ideally, do not breed cats with an Affected Heterozygous result - half of progeny will be carriers. However - if a heterozygous cat is deemed by a breeder to have exceptional qualities that will be of great benefit to the breed otherwise, a cat with such a result may be bred once to a clear/unaffected cat. All of the kittens produced should be tested, and the affected kittens should not be bred. One or more clear/unaffected kittens should then be selected to continue the line. This approach allows the HCM gene to be removed gradually from the population, taking into account the relatively small gene pool available. In this way we are not creating other problems by removing too many cats from the gene pool too quickly. 4. Always ensure that the DNA status is fully disclosed to potential owners prior to any offer of a placement of a cat or kitten, and ensure that the potential owner is fully aware of the requirements of managing a HCM cat. 5. Where there is no genetic test available, (e.g. the Maine Coon second mutation, and other purebreed cats), all breeding cats should undergo regular cardiac ultrasound to screen for signs of HCM. Breeds which have shown and documented HCM include the Sphynx, Bengal, Siberian, Scottish Fold, Norwegian Forest Cat and Persian. This is done with the understanding that the disease is usually adult onset, so breeding may have already taken place by the time any signs are seen, and that the penetrance and expression of HCM can vary, so a cat with a mutation for HCM may not show sufficient signs of disease to be detected. These are unfortunate current limitations until further genetic mutations are characterised for different breeds. 63

64 64

65 Frequently Asked Questions How long can I expect to wait for my results? One we receive your sample/s, you will receive an confirming that your sample/s have arrived. From this date, you can expect to receive your results via within 2-3 weeks. Should you wish to request a hard copy of your report, please notify us either by phone or and we will happily send your results via post. How can I obtain the 10% discount you offer for online payments? In order to receive 10% off the retail price, you re welcome to pay via our Pay Pal account through our Online Store, or by doing an Electronic Funds Transfer (EFT) from your bank account into our bank account. Details are listed on the Molecular DNA Testing Application Forms under Payment Details Section 3. If paying by Credit Card, Cheque or Money Order, payment of the full retail price is required. When is payment for DNA testing due? Ideally, we prefer payment for tests to be made upon sending your sample/s in. However, if you have not paid then, we will still process the requested test/s and send you a reminder for payment. We do not release your results until we have received your payment. How can I request a DNA collection kit? Kit/s can be requested online or by ringing the office on (03) We will send you testing kits free of charge. Can I do the DNA collection myself? Yes. Our kits are very user-friendly and designed so that anyone may easily collect DNA samples from their pets. However, it is recommended for breeders that they use one of our Accredited DNA Collection Agents or their vet in order for the results to be fully certified for potential buyers. Is there a discount for submitting multiple samples at once? Yes. Should you submit samples for more than 6 dogs at one time, you will receive 10% off the total cost. How many swabs do you require per animal? Regardless of how many tests you ve requested for each animal, we only require 1 complete swab packet (2 cheek swabs) per animal for processing. My DNA sample I sent in has unfortunately failed. What do I do now? This can unfortunately happen with collection via cheek swabs. We will require you to re-collect a DNA sample and we will process this sample free of charge. Please note that blood samples never fail, should you prefer to do it this way. You will however need to get your vet to collect this blood sample. 65

66 SWAB COLLECTION INSTRUCTIONS IMPORTANT Please wait at least 30 minutes after a meal or treat (drinking water is fine) to begin your DNA collection. Before collecting the sample, inspect your animal s mouth between cheek and gums for any food material. If collecting from a kitten/puppy that is weaning, please remove from mother for approximately 20 minutes before swabbing. Sample one animal at a time complete the process for one animal before moving to the next animal. Please Note: If samples are collected on cotton swabs a $10 handling fee will be charged. 1. OPEN SWAB SLEEVE Peel back the edges of the nylon brush packaging. Try not to tear the sleeve as it is required for later use. Peel (open) from the handle end and remove the swabs by holding the handle. Remove the unique barcode strip which contains 3 stickers from the packet. 2. COLLECT DNA (EPITHELIAL CELLS) Place the bristle (nylon) head against the inside of the cheek. Pinch the cheek around the bristle head and firmly roll the swab around the pinched area. Pinch and swirl for about 15 seconds. Repeat this step with the second swab. 3. DRY THE SWABS Allow the swabs to air dry for 3-5 minutes. This can be done by standing them up. 4. REINSERT DRY SWABS After the swabs have dried, place them both into the original packaging. Seal the packet closed with one of the barcode stickers. 5. COMPLETE DETAILS Complete the details on the back of the swab packaging, and place another barcode sticker on the space allocated on the packet. Complete the molecular DNA form to ensure all details are included, and place the final barcode sticker on the space allocated on the form. 6. MAIL TO TEST LAB Post samples back to: Orivet Genetic Pet Care PO BOX 110 St KILDA 3182 VIC AUSTRALIA. 7. OVERSEAS CLIENTS Please write our AQIS Permit Number IP Canine DNA Swab Samples Enclosed (Non Pathogenic Samples) on the front of envelope. 8. SAMPLE ARRIVAL Samples can be posted via normal post to the PO BOX and are stable at room temperature. You will receive an to notify you when your samples arrive. Phone: info@orivet.com.au 66

67 Copy of VGA Examination Form (Photocopy if required) VGA - VETERINARY PHYSICAL EXAMINATION Confirm Microchip Number THIS FORM IS TO BE SUBMITTED WITH ALL DNA TESTING Pet or Registered Name: Microchip Number: Scanned: (Please Tick) YES NO Exam Report DO NOT FILL THIS SECTION if the animal is all NORMAL - Simply sign the bottom. Please ONLY record abnormalities present (if any) General Appearance: Any Asymmetry Other Body Condition: Please Indicate Only If Score Is Below 4 (Bcs = 1-9) Mentation: Depressed Uncontrolled Hyper-excitability Cognitive Deficits Other Posture And Gait: Nose / Ears: Eyes: Limping Ataxia Abnormal Limb Placement Other: Abnormality Size Position Lids Conjunctiva Sclera Pupil Cornea Lens Other Mucous Membrane Color & Crt: Abnormality Oral Cavity: Lips Teeth Hard And Soft Palate Tongue Pharynx Tonsils Trachea / Nose: Cough Swelling Other Heart Auscultation: Arrhythmia Murmur (Grade 1-6) Respiratory Rate, Effort And Character: Abnormal Abdomen: Male: Female: Limbs & Joints: Neurological : Distention Deformity Displacement Herniation Palpation Prepuce And Penis Testicles Symmetry, Size, Location, and Conformation Mammary Glands Vulva Size & Structural Defects Abnormal Angulations Deformities Joint Luxations Range Of Motion. Atrophy Knuckling Crepitus Weakness Other Other Abnormality Skin, Coat & Lymph Nodes: Alopecia Masses dryness Excessive Oil Matting Other Behavior- Please Tick: Gentle Social Fearful Possible Caution Aggressive Feral Other Health Issues / Concerns Veterinarian Details Print Veterinarian s Name: Address: Signature: Please provide this form to the animal owner or breeder. You are encouraged to retain a copy for your record Clinic Name: Phone: Date: Disclaimer: Please note that this form is in no way a guarantee that the animal examined is free of genetic disease. It Is a mere indication of the physical examination findings on the day of the examination and other developmental conditions may still be present. To the extent permitted by law, The signed disclaims and will not be accountable for any and all warranties, either express or implied, including but not limited to any warranty regarding performance, the implied warranty of merchantability, fitness for a particular purpose and health with respect to the above report. This disclaimer shall be read subject to any statutory provision which applies to supply of the Veterinary Genetic Assurance Program (VGA) to you and any term condition, warranty and obligation which cannot be excluded or modified. To the extent permitted at law, The undersigned excludes all liability (including all losses, damages, costs and expenses of whatever nature and any indirect and consequential losses, economic losses or any loss of profit, loss of opportunity, loss of savings, loss of interest or otherwise) to you regardless of the nature of the claim, whether in contract, negligence (or any other tort), breach of statutory obligation or otherwise arising from this report. 67

68 BECOME APART OF THE VETERINARY GENETIC ASSURANCE PROGRAMME The Veterinary Genetic Assurance (VGA) Certification Program integrates veterinarians with genetic testing to provide health and pedigree assurance for all companion animal owners, sellers and potential buyers pedigree and non-pedigree. Through their participation in this health-focused program, animal enthusiasts can design their breeding strategies around generations of accredited animals. TO OBTAIN A VGA APPROVED REPORT ANY ANIMAL MUST HAVE: 1. Microchip positive identification - meeting local standards 2. A veterinary examination report 3. DNA test report by an approved laboratory Join the growing list of accredited breeders. Use VGA to promote your responsible breeding. 68 For more information, visit the website