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Cat Genome Project: Animal Model

Home Why the Cat Garfield Project Genetic Maps Links

Phenotype

Human Gene Symbol

MIM #

Protein

Inheritance Pattern in Cats

Feline Reference

ALBINISM, OCULOCUTANEOUS TYPE I

OCA1

203100

TYR

AR

J Clin Invest 87:1119-1122, 1991

BLOOD GROUP SYSTEM AB

ABO

110300

 

CODOMINANT

Blood 79: 2485-2491, 1992

CARDIOMYOPATHY, HYPERTROPHIC

SEVERAL

SEVERAL

 

AD

Circulation 92: 2645-2651, 1995

CEREBELLAR DEGENERATION

SEVERAL

SEVERAL

 

AR

Amer J Vet Res 57:296-301, 1996

CEROID LIPOFUSCINOSIS

SEVERAL

SEVERAL

 

SIAMESE

Vet Sci 38: 207-212, 1974

CHEDIAK-HIGASHI SYNDROME

CHS1

214500

LYST

AR

J Heredity 72: 175-177, 1981

DWARFISM

ACH

100800

FGFR3

AD

Fed Proceed 33: 598, 1974

EHLERS-DANLOS SYNDROME, TYPE VII

ADAMTS2

225410

ADAMT S

AR

Lab Invest 37: 170-179, 1977

FACTOR X DEFICIENCY

F10

227600

F10

 

AVMA 211: 576 ff., 1997

FACTOR XII DEFICIENCY

HAF

234000

F12

AR

Can J Comp Med 44: 309-314, 1980

G6PD DEFICIENCY

G6PD

305900

G6PD

XR

PNAS 92: 2031-2035, 1995

GANGLIOSIDOSIS, GM1

GLB1

230500

*GLB1

AR

Acta Neuropath 96: 307-314, 1998

GANGLIOSIDOSIS, GM2

HEXB

268800

*HEXB

AR

Amer J Path 74: 649-652, 1974

GLYCOGEN STORAGE DISEASE II

GAA

232300

GAA

 

Annales Bio Clinique 51:218-219, 1993

GLYCOGEN STORAGE DISEASE IV

GBEI

232500

*GBE1

AR

Ped Res 32: 719-725, 1992

HAEMOPHILIA A

HEMA

306700

F8

X

Brit Vet J146: 30-35, 1990

HAEMOPHILIA B

HEMB

306900

F9

X

AVMA 203: 1702-1704, 1993

HERMAPHRODITE

 

 

 

XY

J Small Animal Prac 38: 21-24, 1997

HYPERLIPOPROTEINAEMIA

LPL

238600

*LPL

AR

J Clin Invest 97: 1257-1266, 1996

HYPOTRICHOSIS

SEVERAL

SEVERAL

 

AR

J Cat Genet 1: 10-11, 1964

MANNOSIDOSIS, ALPHA

MANB1

248500

*MANB

AR

Biochem J 328: 863-870, 1995

MONO-CRYPTORCHIDISM

 

 

 

HERITABLE

AVMA 200: 1128-1130, 1992

MUCOLIPIDOSIS II

ML2, ICD

252500

GNPTA

AR

J Small Animal Prac 37: 435-441, 1996

MUCOPOLYSACCHARIDOSIS I

MPS1

252800

IDUA

AR

Ped Res 13: 1294-1297, 1979

MUCOPOLYSACCHARIDOSIS VI

MPS6

253200

*ARSB

AR

Biochem Biophy Res Comm 196:1177-1182, 1993

MUCOPOLYSACCHARIDOSIS VII

MPS7

253220

*GUSB

AR

Vet Path 31: 435-443, 1994

MUSCULAR DYSTROPHY, DMD, BECKER

BMD

310200

DYS

X

J Neurol Sci 110: 149-159, 1992

NEUROAXONAL DYSTROPHY

 

 

 

HERITABLE

Amer J Path 74: 551-560, 1974

NIEMANN-PICK DISEASE, TYPE C

NPC1

257220

*NPC1

AR

Science 208: 1471-1473, 1980

PELGER-HUET ANOMALY

 

260570

 

HERITABLE

Feline Practice 11: 44-47, 1981

POLYCYSTIC KIDNEY DISEASE

PKD1,2,3

263200

PKD

AD

J Heredity 87: 1-5, 1996

POLYDACTYLY

 

 

 

AD

J Heredity 38: 107-112, 1947

PROGRESSIVE RETINAL ATROPHY

SEVERAL

SEVERAL

 

AR

Svensk Veterinartidning 33: 147-150, 1981

ROD-CONE DYSPLASIA

SEVERAL

SEVERAL

 

AD

Exper Eye Res 53: 489-502, 1991

SPINA BIFIDA

Tla

182940

 

AD

J Cat Genet 1: 16-, 1964

TESTICULAR FEMINIZATION

DHTR

313700

DHTR

X

AVMA 195: 1456, 1989

URTICARIA PIGMENTOSA

 

154800

 

SPHYNX

Vet Derm 7: 227-233, 1996

VITAMIN-K-DEPENDENT

FMFD3

277450

Vitamin- K

DEVON REX

J Small Animal Prac 36: 115-118, 1995

BLOOD COAGULATION FACTORS DEF.

 

 

 

 

 


Proteins with an "*" imply the feline mutation is known. *PKD also could be MIM #: 600666 or 600273

Shaw, D.H. (1964). The albino locus. Siamese and Burmese and their relationship to silvers and cameos. All-Pets Magazine 35: 22,32.

Littlewood, J.D., Evans, R.J. (1990). A Combined Deficiency of Factor-VIII and Contact Activation Defect in a Family of Cats. British Veterinary Journal 146: 30-35.

Veterinary Journal-Revue Veterinaire Canadienne 32: 326.

Lauder, P. (1964). Rex and hairless in the domestic cat. Journal of Cat Genetics 1: 10-11.

Reuser, A.J.J. (1993). Molecular Biology, Therapeutic Trials and Animal Models of Lysosomal Storage Diseases - Type-II Glycogenosis as an Example. Annales de Biologie Clinique 51: 218-219.

Bredal, W.P., Thoresen, S.I., Kvellestad, A., Lindblad, K. (1997). Male pseudohermaphroditism in a cat. Journal of Small Animal Practice 38: 21-24.

Deluca, T. et al. (1993). Preliminary Molecular Analysis of a Case of Feline Mucopolysaccharidosis-VI. Biochemical and Biophysical Research Communications 196: 1177-1182.

Gitzelmann, R., Bosshard, N.U., Supertifurga, A., Spycher, M.A., Briner, J., Wiesmann, U., Lutz, H., Litschi, B. (1994). Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency. Veterinary Pathology 31: 435-443.

Hubler, M., Haskins, M.E., Arnold, S., Kaserhotz, B., Bosshard, N.U., Briner, J., Spycher, M.A., Gitzelmann, R., Sommerlade, H.J., Vonfigura, K. (1996). Mucolipidosis type II in a domestic shorthair cat. Journal of Small Animal Practice 37: 435-441.

Gaschen, F.P., Hoffman, E.P., Gorospe, J.R.M., Uhl, E.W., Senior, D.F., Cardinet, G.H., Pearce, L.K. (1992). Dystrophin Deficiency Causes Lethal Muscle Hypertrophy in Cats. Journal of the Neurological Sciences 110: 149-159.

Wenger, D.A., Sattler, M., Kudoh, T., Synder, S.P., Kingston, R.S.(1980). Niemann-Pick disease: a genetic model in Siamese cats. Science 208: 1471-1473.

Valentine, B.A., Kaplan, F.S. (1996). Fibrodysplasia ossificans progressiva in cats - a potentially important animal model of the human disease (reprinted from feline health topics for veterinarians, vol 9, pg 4, 1994). Feline Practice 24: 6.

Maggioprice, L., Dodds, W.J. (1993). Factor IX Deficiency (Hemophilia B) in a Family of British Shorthair Cats. Journal of the

American Veterinary Medical Association 203: 1702-1704.

Biller, D.S., Dibartola, S.P., Eaton, K.A., Pflueger, S., Wellman, M.L., Radin, M.J. (1996). Inheritance of polycystic kidney disease in Persian cats. Journal of Heredity 87: 1-5.

1947

Danforth, C.H. (1947). Heredity of polydactyly in the cat. Journal of Heredity 38: 107-112.

Narfstrom, K. (1981). Progressive retinal atrophy in Abyssinian cats. Svensk Veterinartidning 33: 147-150.

Leon, A., Hussain, A.A., Curtis, R. (1991). Autosomal Dominant Rod Cone Dysplasia in the Rdy Cat .2. Electrophysiological Findings. Experimental Eye Research 53: 489-502.

Morris, L.M. (1965). Feline degeneration retinopathy. Cornell Veterinarian 55: 295-308.

Green, E.L. (1957). Mutant stocks of cats and dogs offered for research. Journal of Heredity 48: 56-57. (Brachydactyl)

Kerruish, D.W. (1964). The Manx cat and spina bifida. Journal of Cat Genetics 1: 16-. Gunnmoore, D.A., Brown, P.J., Holt, P.E., Gruffydd-Jones, T.J. (1995). Priapism in seven cats. Journal of Small Animal Practice 36: 262-266.

Kalil, R.E., Jhaveri, S.R., Richards, W. (1971). Anomalous retinal pathways in the Siamese cat: an inadequate substrate for normal binocular vision. Science 174: 302-305.

Vitale, C.B., Ihrke, P.J., Olivry, T., Stannard, A.A. (1996). Feline urticaria pigmentosa in three related sphinx cats. Veterinary Dermatology 7: 227-233.

Lawhorn, B. (1989). Testicular Feminization in a Cat. Journal of the American Veterinary Medical Association 195: 1456.

1993

Holland, C.T. (1996). Horners syndrome and ipsilateral laryngeal hemiplegia in three cats. Journal of Small Animal Practice 37: 442-446.

Duesberg, C., Peterson, M.E. (1997). Adrenal disorders in cats. Veterinary Clinics of North America - Small Animal Practice 27: 321 ff.. (hyperaldoster)

Vitale, C.B., Ihrke, P.J., Gross, T.L., Werner, L.L. (1997). Systemic lupus erythematosus in a cat - fulfillment of the american rheumatism association criteria with supportive skill histopathology. Veterinary Dermatology 8: 133-138.

Johnson, K.H. (1970). Globoid leukodystrophy in the cat. Journal of the American Veterinary Medical Association 157: 2057-2064. (KRABBE)

Inada, S., Mochizuki, M., Izumo, S., Kuriyama, M., Sakamoto, H., Kawasaki, Y., Osame, M. (1996). Study of hereditary cerebellar degeneration in cats. American Journal of Veterinary Research 57: 296-301.

Bellah, J.R., Robertson, S.A., Buergelt, C.D., Mcgavin, A.D. (1989). Suspected Malignant Hyperthermia After Halothane Anesthesia in a Cat. Veterinary Surgery 18: 483-488.

Hays, G.P. (1917-1918). A case of a Syndactylous cat. Journal of Morphology 30: 65-82.

Walton, R.M., Modiano, J.F., Thrall, M.A., Wheeler, S.L. (1996). Bone marrow cytological findings in 4 dogs and a cat with hemophagocytic syndrome. Journal of Veterinary Internal Medicine 10: 7-14.

Woodard, J.C., Collins, G.H., Hessler, J.R. (1974). Feline hereditary neuroaxonal dystrophy. American Journal of Pathology 74: 551-560.

Curtis, R., Barnett, K.C., Leon, A. (1987). An early-onset retinal dystrophy with dominant inheritance in the Abyssinian cat. Clinical and pathological findings. Investigative Ophthalmology and Visual Science 28: 131-139.

Danpure, C.J., Jennings, P.R., Mistry, J., Chalmers, R.A., Mckerrell, R.E., Blakemore, W.F., Heath, M.F. (1989). Enzymological Characterization of a Feline Analogue of Primary Hyperoxaluria Type-2 - A Model for the Human Disease. Journal of Inherited Metabolic Disease 12: 403-414.

Weber, S.E., Feldman, B.F., Evans, D.A. (1981). Pelger- Huet anomaly of granulocytic leukocytes in two feline littermates. Feline Practice 11: 44-47.

Abkowitz, J.L., Persik, M.T., Shelton, G.H., Ott, R.L., Kiklevich, J.V., Catlin, S.N., Guttorp, P. (1995). Behavior of hematopoietic stem cells in a large animal. Proceedings of the National Academy of Sciences of the United States of America 92: 2031-2035.

Andrews, G.A., Chavey, P.S., Smith, J.E., Rich, L. (1992). N-Glycolylneuraminic Acid and N-Acetylneuraminic Acid Define Feline Blood Group-A and Group-B Antigens. Blood 79: 2485-2491.

Giebel, L.B., Tripathi, R.K., King, R.A., Spritz, R.A. (1991). A Tyrosinase Gene Missense Mutation in Temperature-Sensitive Type-I Oculocutaneous Albinism - A Human Homologue to the Siamese Cat and the Himalayan Mouse. Journal of Clinical Investigation 87: 1119-1122.