Disease and Trait Chromosome Chart

Many traits and diseases have been associated with specific genes or chromosomes. The following summarizes data presented in the research literature. This list is intended to provide guidelines for these traits and diseases; it may not be a complete list of traits/diseases or breeds that carry each. This list will expand as new information becomes available.

Chromosome	Gene	Trait/Disease	Mode of Inheritance	Allele has been identified in the following breeds	Lab for Mutation Testing/Comments
1		Brachycephaly		Affenpinscher, Boston Terrier, Boxer, Bulldog, French Bulldog, Japanese Chin, Pekingese, Pug, Shih Tzu, plus several more breeds
2	PTPLA	Centronuclear Myopathy	Recessive	Labrador Retriever	VetGen
3	SLC2A9	Canine Hyperuricosuria	Recessive	Dalmatian, Bulldog, Black Russian Terrier	VGL Davis
3	ADAMTS17	Lens Luxation	Likely recessive but may affect some heterozygotes	Jack Russell Terrier, Parson Russell Terrier, Miniature Bull Terrier, Lancahire Heeler, Tibetan Terrier
5	BHD	RCND (hereditary cancer)	Dominant	German Shepherd	VetGen
5	HSF4	Cataract (Juvenile Hereditary)	Recessive	Boston Terrier	VetGen
5	HSF4	Cataract (Hereditary)	Recessive	Staffordshire Bull Terrier, French Bulldog	VetGen
5	NPHP4	cone-rod degeneration	Recessive	Standard Wirehair Dachshund
5	HSF4	Cataract (Dominant Hereditary)	Dominant	Australian Shepherd	Animal Health Trust
5	MCR1	Clear yellow/red	Recessive	Some breeds including Golden Retriever, Labrador Retriever
5	MC1R	Mask	Dominant	Some breeds including Boxer, French Bulldog, German Shepherd
7	PKLR	Pyruvate Kinase deficiency	Recessive	Basenji
9	ADAMTSL2	Musladin-Lueke Syndrome	Recessive	Beagle	VGL Davis
9	ARSG	Neuronal Ceroid Lipofucinosis (late-onset)	Recessive	American Staffordshire Terrier (US and France)
10	COMMD1	Copper Toxicosis	Recessive	Bedlington Terrier	VetGen
10	SLC3A1	Cystinuria	Recessive	Newfoundland
10	SILV	Merle	Semi-dominant	Australian Shepherd, Border Collie, Cardigan Welsh Corgi, Chihuahua, Cocker Spaniel, Great Dane, plus several more breeds
11	TYRP1	Black	Dominant	Most breeds
11	TYRP1	Brown/Chocolate	Recessive	Some breeds including Labrador Retriever, Chesapeake Bay Retriever	3 separate alleles identified
12	multiple	Major histocompatibility complex (immune genes)		All breeds
13	RSPO2	"Furnishings" (moustache and eyebrows typically observed in wire-haired dogs	Dominant	Several breeds including Airedale Terrier, Australian Terrier, Bearded Collie, Bichon Frise, Black Russian Terrier, Border Terrier, Bouvier, Briard, Brussels Griffon, Cairn Terrier, Chinese Crested, Dachshund, Dandie Dinmont Terrier, German Wirehaired Pointer, Giant Schnauzer, Glen of Imaal Terrier, Havanese, Irish Terrier, Irish Wolfhound, Kerry Blue Terrier, Lhasa Apso, Maltese, Norfolk Terrier, Old English Sheepdog, Petit Basset Griffon Vendeen, Portuguese Water Dog, Scottish Deerhound, Shih Tzu, Silky Terrier, Soft Coated Wheaten Terrier, Spinone Italiano, Standard Poodle, Standard Schnauzer, Welsh Terrier, West Highland White Terrier, Wire Fox Terrier, Wirehaired Pointing Griffon, Yorkshire Terrier
14	ABCB4	Gallbladder Mucoceole	Dominant w/incomplete penetrance	Shetland Sheepdog, Cocker Spaniel, Cairn Terrier, Pomeranian	Research on-going at University of Washington
15	PPT1	Neuronal Ceroid Lipofucinosis (early-onset)	Recessive	Miniature Dachshund	University of Missouri/OFA
15	RPGRIP1	cord1 - PRA	Recessive	English Springer Spaniel, Miniature Shorthair Dachshund, Miniature Longhair Dachshund	VetGen
15	IGF1	Size/weight (other genes involved)		Most breeds
16	CLCN1	Myotonia Congenita	Recessive	Miniature Schnauzer
16	CBD103	Brindle	Dominant	Some breeds including Akita, American Staffordshire Terrier, Boston Terrier, Bouvier, Boxer, Bulldog, Bullmastiff, Cardigan Welsh Corgi, French Bulldog, Great Dane, Greyhound, Mastiff, Neapolitan Mastiff, Plott, Scottish Terrier, Staffordshire Bull Terrier
17	striatin	Boxer cardiomyopathy	Semi-dominant	Boxer	University of Washington
17	TPO	Congenital Hypothyroidism with Goiter	Recessive	Toy Fox Terrier, Rat Terrier	Michigan State University
18	Fgf4 retrogene	Chondrodysplasia	Semi-dominant	Several breeds including Basset Hound, Carin Terrier, Cardigan Welsh Corgi, Chihuahua, Dachshund, Dandie Dinmont Terrier, Glen of Imaal Terrier, Grand Basset Griffon Vendeen, Havanese, Japanese Chin, Lancashire Heeler, Norwich Terrier, Pekingese, Pembroke Welsh Corgi, Petit Basset Griffon Vendeen, Scottish Terrier, Shih Tzu, Skye Terrier, Swedish Valhund, Tibetan Spaniel, West Highland White Terrier, Yorkshire Terrier
20	AP3	Cyclic Neutropenia	Recessive	Collie	VetGen
20	MITF	White spotting	Semi-dominant	several breeds
21	CTSD	Neuronal Ceroid Lipofucinosis	Recessive	American Bulldog, English Setter	VetGen
22	FVII	Factor VII deficiency	Recessive	Beagle, Alaskan Klee Kai
24	ASIP	Fawn (ay)	Dominant	Several breeds including Akita, Basset Hound, Brittany, Cardigan Welsh Corgi, Chinese Shar Pei, Collie, Dachshund, Eurasier, Finnish Lapphund, Golden Retriever, Large Munsterlander, Pembroke Welsh Corgi, Russell Terrier, Saluki, Shetland Sheepdog, Viszla
24	ASIP	Wolf sable (aw)	Dominant	Several breeds including Akita, Alaskan Malamute, Border Collie, Brittany, Chinese Shar Pei, Dachshund, Eurasier, German Shepherd, German Shorthair Pointer, German Wirehair Pointer, Golden Retriever, Keeshond, Miniature Schnauzer, Norwegian Elkhound, Siberian Husky, Standard Schnauzer, Swedish Vallhund, Viszla
24	ASIP	Tan points (at)	Recessive	Several breeds including Beagle, Border Collie, Cardigan Welsh Corgi, Chihuahua, Collie, Dachshund, Doberman Pinscher, German Shepherd, Golden Retriever, Labrador Retriever, Miniature Pinscher, Pembroke Welsh Corgi, Rottweiler, Russell Terrier, Saluki, Shetland Sheepdog
24	ASIP	Recessive Black (a)	Recessive	Border Collie, Eurasier, German Shepherd, Shetland Sheepdog
25	MLPH	Dilution	Recessive	Some breeds including Doberman Pinscher, Weimaraner
27	vWF	Type I vWD	Dominant w/variable penetrance	Bernese Mountain Dog, Coton de Tulear, Dobermann Pinscher, German Pinscher, Kerry Blue Terrier, Manchester Terrier, Papillon, Pembroke Welsh Corgi, Poodle	VetGen
27	vWF	Type II vWD	Recessive	Collie, German Longhaired Pointer, German Shorthaired Pointer, German Wirehaired Pointer, Pointer	VetGen
27	vWF	Type III vWD	Recessive	Scottish Terrier, Shetland Sheepdog, Kooikerhondje	VetGen
27	PFKM	Phosphofructokinase deficiency	Recessive	English Springer Spaniel, Cocker Spaniel, Whippet
27	KRT71	Curly coat	Dominant	Airedale Terrier, Bichon Frise, Border Collie, Boykin Spaniel, Chesapeake Bay Retriever, Chihuahua, Havanese, Kuvasz, Leonberger, Maltese, Portuguese Water Dog, Soft Coated Wheaten Terrier, Standard Poodle, Welsh Terrier, Wire Fox Terrier	*Note: in some breeds, the genotype does not explain the observed phenotype
29	PDP1	Pyruvate Dehydrogenase Phosphatase I	Recessive	Clumber Spaniel, Sussex Spaniel	VetGen
31	SOD1	Degenerative Myelopathy	Recessive	German Shepherds, Rhodesian Ridgebacks, Boxers, Pembroke Welsh Corgis, Cardigan Welsh Corgi, Chesapeake Bay Retrievers, Standard Poodles, American Eskimo, Bernese Mtn Dog, Golden Retriever, Great Pyrenees, Kerry Blue Terrier, Pug, Shetland Sheepdog, Soft Coated Wheaten Terrier, Wire Fox Terrier	University of Missouri/OFA
32	FGF5	Shorthair	Dominant	Afghan Hound, Airedale Terrier,Akita, Alaskan Malamute, Australian Shepherd, Australian Terrier, Basenji, Basset Hound, Beagle, Bloodhound, Border Collie, Border Terrier, Boston Terrier, Boxer, Brussels Griffon, Bulldog, Bullmastiff, Cairn Terrier, Cardigan Welsh Corgi, Chesapeake Bay Retriever, Chihuahua, Chinese Crested, Chow Chow, Collie, Dachshund, Dandie Dinmont Terrier, Doberman Pinscher, Entlebucher Mountain Dog, German Shepherd, German Shorthair Pointer, Giant Schnauzer, Glen of Imaal Terrier, Great Dane, Greater Swiss Moutain Dog, Greyhound, Irish Terrier, Irish Wolfhound, Italian Greyhound, Japanese Chin, Kerry Blue Terrier, Kuvasz, Labrador Retriever, Mastiff, Norfolk Terrier, Pembroke Welsh Corgi, Petit Basset Griffon Vendeen, Pharaoh Hound, Pug, Rottweiler, Saint Bernard, Saluki, Samoyed, Scottish Deerhound, Scottish Terrier, Silky Terrier, Smooth Fox Terrier, Spinone Italiano, Staffordshire Bull Terrier, Standard Schnauzer, Swedish Valhund, Tibetan Mastiff, Toy Fox Terrier, Welsh Terrier, West Highland White Terrier, Whippet, Wire Fox Terrier, Yorkshire Terrier	*Note: in some breeds, the genotype does not explain the observed phenotype
32	FGF5	Longhair	Recessive	Afghan Hound, Airedale Terrier, Alaskan Malamute, American Eskimo, American Water Spaniel, Australian Shepherd, Bearded Collie, Belgian Tervuren, Bernese Mountain Dog, Bichon Frise, Black Russian Terrier, Border Collie, Borzoi, Bouvier, Boykin Spaniel, Briard, Brittany, Carin Terrier, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chihuahua, Chinese Crested, Chow Chow, Clumber Spaniel, Cocker Spaniel, Collie, Dachshund, English Cocker Spaniel, English Setter, Flat-Coated Retriever, German Shepherd, Giant Schnauzer, Golden Retriever, Gordon Setter, Great Pyrenees, Havanese, Irish Water Spaniel, Japanese Chin, Kerry Blue Terrier, Kuvasz, Leonberger, Lhasa Apso, Maltese, Newfoundland, Old English Sheepdog, Papillon, Pekingese, Pomeranian, Portuguese Water Dog, Rottweiler, Saint Bernard, Saluki, Samoyed, Scottish Deerhound, Shih Tzu, Silky Terrier, Soft Coated Wheaten Terrier, Standard Poodle, Sussex Spaniel, West Highland White Terrier, Yorkshire Terrier