Cat Genetic Mutations 05 April 2020 (Public) Table 1

The genes and DNA variants for phenotypic traits of the domestic cat.

Disease / Trait (alleles) OMIA Entry MOI Phenotype Gene Gene Name Mutation
Agouti (A+, a, APbe)[1, 2] 000201-9685 AR Banded fur to solid ASIP Agouti-signaling protein c.122_123delCA; Pbe haplotype
Brown (B+, b, bl)[3, 4] 001249-9685 AR Brown, light brown color variants TYRP1 Tyrosinase-related protein 1 b = IVS6(1262)+5G>A, bl = c.298C>T
Color (C+, Cb, Cs, c, c2, cm)[3, 5-7] 000202-9685 AR Burmese, Siamese color pattern, full albino TYR Tyrosinase cb = c.715G>T, cs = c.940G>A, c = c.975delC, c2 = c.1204C>T (DSH), c.820_936delinsAATCTC
Dilution (D+, d)[8] 000206-9685 AR Black to grey / blue, Orange to cream MLPH Melanophilin c.83delT
Dwarfism 000299-9685 AD Shortening of long bones UGDH UDP-Glucose 6-Dehydrogenase 3.3 KB deletion
Extension (E+, e, er, ec) – Amber, russet, serdolic/carnelian[9, 10] 001199-9685 AR Brown/red color variant MC1R Melanocortin receptor 1 c.250G>A; c.del439TCT; c. 638_667del p.214_223del
Fold (Fd, fd+)[11] 000319-9685 AD Ventral ear fold – Scottish Fold TRPV4 Transient Receptor Potential cation channel, subfamily V, member 4 c.1024G>T
Glitter AR Glitter, shine in hair coat unpublished unpubllished SV 2 Kb insertion
Gloves (G+, g)[12] 001580-9685 AR White feet – Birman KIT KIT c.1035_1036delinsCA
Hairless (Hr+, hr)[13] 001583-9685 AR Atrichia – Sphynx KRT71 Keratin 71 c.816+1G>A
Inhibitor (I, i+) 001583-9685 AD Absence of phaeomelanin unknown unknown unknown
Japanese Bobtail (J, j+)[14, 15] 001987-9685 AD Kinked tail HES7 Hairy and Enhancer of Split family, transcription factor 7 c.5A>G
Kurl (K, k+) 000244-9685 AD Rostral curled pinnae – American curl unknown unknown unknown
LaPerm 000245-9685 AD Curly hair coat unknown Unknown unknown
Longhair (L+, l)[16, 17] 000439-9685 AR Long fur Ragdoll, NFC, MCC, various FGF5 Fibroblast growth factor 5 c.356_367insT, c.406C>T, c.474delT, c.475A>C
Lykoi AR Absent undercoat HR Hairless 6 variants
Manx (M, m+)[18] 000975-9685 AD Absence/short tail TBOX T – box c.998delT, c.1169delC, and c.1199delC, c.998_1014dup17delGCC
Orange (O, o+) 001201-9685 X linked Change in pigment hue Unpublish Unpublished 5 Kb deletion
Peterbald 001201-9685 AD Hairless, brush coat unknown unknown unknown
Polydactyla (Pd, pd+)[19] 000810-9685 AD Extra toes Hemingway (Maine Coon), UK1, UK2 LMBR1 long-distant, limb-specific cis-regulator for SHH c.479A>G, c.257G>C, c.481A>T
Rexing (R+, r)[20] 001684-9685 AR Curly hair coat – Cornish Rex LPAR6 Lysophosphatidic acid receptor 6 c.250_253delTTTG
Rexing (Re+, re)[13] 001581-9685 AR Curly hair coat _ Devon Rex KRT71 Keratin 71 c.1108-4_1184delinsAGTTGGAG, c.1196insT
Rexing (RS, rs+)[21] 001712-9685 AD Curly hair coat – Selkirk Rex KRT71 Keratin 71 c.445-1G>C
Rexing (RU, ru) AR Curly hair coat – Ural Rex unpublished unpublished unpublished
Spotting (S, s+)[23] 000214-9685 Co-D Bicolor / van white KIT KIT 7125ins intron 1 FERV1 element
Tabby(TM, tb)[24] 001429-9685 AR Blotched/classic pattern LVRN Laeverin c.176C>A; c.416C>A; c.682C>A; c.2522G>A
Ticked (Ta, t) 001484-9685 AD No Tabby pattern unknown unknown unknown
White (W, w+)[23] 000209-9685 AD Loss of pigmentation KIT KIT ~700ins intron 1 FERV1 LTR
Wide-band AR? Length of pheomelanin band in hair unknown unknown unknown

‡ Mode of inheritance of the non-wild type variant.  A “+” implies the wild type allele when known. In reference to the mutant allele, AD implies autosomal dominant, AR implies autosomal recessive, co-D implies co-dominant. OMIA: Online Mendelian Inheritance in Animals entries provides links to citations and clinical descriptions of the phenotypes and the diseases. Presented citations are for the causative variant discovery.


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2.         Gershony, L.C., et al., Who’s behind that mask and cape? The Asian leopard cat’s Agouti (ASIP) allele likely affects coat colour phenotype in the Bengal cat breed. Animal Genetics, 2014. 45(6): p. 893-7.

3.         Schmidt-Kuntzel, A., et al., Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the Albino and Brown loci. Journal of Heredity, 2005. 96(4): p. 289-301.

4.         Lyons, L.A., et al., Chocolate coated cats: TYRP1 mutations for brown color in domestic cats. Mammalian Genome, 2005. 16(5): p. 356-66.

5.         Imes, D.L., et al., Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Animal Genetics, 2006. 37(2): p. 175-8.

6.         Lyons, L.A., et al., Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). Animal Genetics, 2005. 36(2): p. 119-26.

7.         Abitbol, M., et al., Allelic heterogeneity of albinism in the domestic cat. Anim Genet, 2016.

8.         Ishida, Y., et al., A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Genomics, 2006.

9.         Peterschmitt, M., et al., Mutation in the melanocortin 1 receptor is associated with amber colour in the Norwegian Forest Cat. Anim Genet, 2009. 40(4): p. 547-52.

10.       Gustafson, N.A., B. Gandolfi, and L.A. Lyons, Not another type of potato: MC1R and the russet coloration of Burmese cats. Anim Genet, 2016.

11.       Gandolfi, B., et al., A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. Osteoarthritis Cartilage, 2016. 24(8): p. 1441-50.

12.       Montague, M.J., et al., Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication. Proc Natl Acad Sci U S A, 2014. 111(48): p. 17230-5.

13.       Gandolfi, B., et al., The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71. Mamm Genome, 2010. 21(9-10): p. 509-15.

14.       Lyons, L.A., et al., Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics, 2016. 17: p. 265.

15.       Xu, X., et al., Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats. Sci Rep, 2016. 6: p. 31583.

16.       Drogemuller, C., et al., Mutations within the FGF5 gene are associated with hair length in cats. Anim Genet, 2007. 38(3): p. 218-21.

17.       Kehler, J.S., et al., Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired phenotype in domestic cats. J Hered, 2007. 98(6): p. 555-66.

18.       Buckingham, K.J., et al., Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats. Mamm Genome, 2013.

19.       Lettice, L.A., et al., Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet, 2008. 17(7): p. 978-85.

20.       Gandolfi, B., et al., To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed. PLoS One, 2013. 8(6): p. e67105.

21.       Gandolfi, B., et al., A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. Sci Rep, 2013. 3: p. 2000.

22.       Pilgrim, K.L., et al., Felid sex identification based on noninvasive genetic samples. Molecular Ecology Notes, 2005. 5: p. 60-61.

23.       David, V.A., et al., Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda), 2014. 4(10): p. 1881-91.

24.       Kaelin, C.B., et al., Specifying and sustaining pigmentation patterns in domestic and wild cats. Science, 2012. 337(6101): p. 1536-41.

25.       Bighignoli, B., et al., Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) mutations associated with the domestic cat AB blood group. BMC Genet, 2007. 8: p. 27.

26.       Gandolfi, B., et al., A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats. PLoS One, 2016. 11(5): p. e0154973.

27.       Tasker, S., et al., Feline blood genotyping versus phenotyping, and detection of non-AB blood type incompatibilities in UK cats. J Small Anim Pract, 2014. 55(4): p. 185-9.

28.       Omi, T., et al., Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) Gene Associated with the Feline AB Blood Group System. PLoS One, 2016. 11(10): p. e0165000.

29.       Kehl, A., et al., Molecular characterization of blood type A, B, and C (AB) in domestic cats and a CMAH genotyping scheme. PLoS One, 2018. 13(9): p. e0204287.

30.       Aberdein, D., et al., A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome, 2016.

31.       Lyons, L.A., et al., Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol, 2016. 409(2): p. 451-8.

32.       Yoshikawa, R., et al., A Naturally Occurring Domestic Cat APOBEC3 Variant Confers Resistance to Feline Immunodeficiency Virus Infection. J Virol, 2015. 90(1): p. 474-85.

33.       Martin, D.R., et al., Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab, 2008. 94(2): p. 212-21.

34.       Bradbury, A.M., et al., Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab, 2009. 97(1): p. 53-9.

35.       Muldoon, L.L., et al., Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am J Pathol, 1994. 144(5): p. 1109-18.

36.       Martin, D.R., et al., Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol, 2005. 110(5): p. 443-50.

37.       Meurs, K.M., et al., A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet, 2005. 14(23): p. 3587-93.

38.       Meurs, K.M., et al., A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics, 2007. 90(2): p. 261-4.

39.       Gandolfi, B., et al., First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats. PLoS One, 2012. 7(12): p. e53173.

40.       Menotti-Raymond, M., et al., Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered, 2007. 98(3): p. 211-20.

41.       Menotti-Raymond, M., et al., Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci. , 2010. 51(6): p. 2852-9.

42.       Lyons, L.A., et al., Feline polycystic kidney disease mutation identified in PKD1. J Am Soc Nephrol, 2004. 15(10): p. 2548-55.

43.       Grahn, R.A., et al., Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res, 2012. 8(1): p. 207.

44.       Gandolfi, B., et al., COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet, 2015. 46(6): p. 711-5.

45.       Abitbol, M., et al., A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One, 2015. 10(9): p. e0137019.

46.       Fyfe, J.C., et al., An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Research, 2006. 16(9): p. 1084-90.

47.       Owens, S.L., et al., Congenital adrenal hyperplasia associated with mutation in an 11beta-hydroxylase-like gene in a cat. J Vet Intern Med, 2012. 26(5): p. 1221-6.

48.       Chang, H.S., et al., Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep, 2012. 6: p. 21-6.

49.       Asada, H., et al., Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene. J Vet Intern Med, 2019. 33(2): p. 874-878.

50.       Mizukami, K., K. Raj, and U. Giger, Feline cystinuria caused by a missense mutation in the SLC3A1 gene. J Vet Intern Med, 2015. 29(1): p. 120-5.

51.       Mizukami, K., et al., Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. PLoS One, 2016. 11(7): p. e0159247.

52.       Hilton, S., K. Mizukami, and U. Giger, [Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany]. Tierarztl Prax Ausg K Kleintiere Heimtiere, 2017. 45(4): p. 265-272.

53.       Spycher, M., et al., A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome. Anim Genet, 2018. 49(6): p. 641-644.

54.       Bender, D.E., et al., Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. Vet Pathol, 2015. 52(2): p. 312-20.

55.       Maruyama, H., et al., A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. J Vet Med Sci, 2017. 79(5): p. 822-826.

56.       Maruyama, H., et al., Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. Gene, 2019. 706: p. 6-12.

57.       Casal, M.L., et al., Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva. Vet Pathol, 2019. 56(4): p. 614-618.

58.       Uddin, M.M., et al., Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. J Vet Med Sci, 2013. 75(3): p. 395-7.

59.       Martin, D.R., et al., An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol, 2004. 187(1): p. 30-7.

60.       Kanae, Y., et al., Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci, 2007. 82(1): p. 54-60.

61.       Kuehn, M.H., et al., Correction: A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). PLoS One, 2016. 11(8): p. e0161517.

62.       Kuehn, M.H., et al., A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). PLoS One, 2016. 11(5): p. e0154412.

63.       Goree, M., et al., Characterization of the mutations causing hemophilia B in 2 domestic cats. J Vet Intern Med, 2005. 19(2): p. 200-4.

64.       Goldstein, R., et al., Primary Hyperoxaluria in cats caused by a mutation in the feline GRHPR gene. J Hered, 2009. 100(Supplement 1): p. S2-S7.

65.       Hug, P., et al., A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition. Genes (Basel), 2019. 10(10).

66.       Giger, U., et al., Congenital hypothyroidism with goiter in cats due to a TPO mutation. J Vet Intern Med  2015. 29(448): p. Abstract ESVE-O-4.

67.       Abitbol, M., et al., A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats. PLoS One, 2015. 10(3): p. e0120668.

68.       De Lucia, M., et al., Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi. Vet Dermatol, 2019. 30(1): p. 64-e18.

69.       Bauer, T.R., Jr., et al., Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin beta2 (ITGB2) gene. Vet Clin Pathol, 2017. 46(3): p. 391-400.

70.       Ginzinger, D.G., et al., A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats. J Clin Invest, 1996. 97(5): p. 1257-66.

71.       Wang, P., et al., A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). BMC Vet Res, 2018. 14(1): p. 416.

72.       Berg, T., et al., Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochem J, 1997. 328 ( Pt 3): p. 863-70.

73.       He, X., et al., Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab, 1999. 67(2): p. 106-12.

74.       Yogalingam, G., et al., Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem, 1996. 271(44): p. 27259-65.

75.       Yogalingam, G., et al., Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity. J Biol Chem, 1998. 273(22): p. 13421-9.

76.       Crawley, A.C., et al., Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest, 1998. 101(1): p. 109-19.

77.       Fyfe, J.C., et al., Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics, 1999. 58(2): p. 121-8.

78.       Wang, P., et al., Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene. J Vet Intern Med, 2015. 29(4): p. 1022-8.

79.       Winand, N.J., et al., Deletion of the dystrophin muscle promoter in feline muscular dystrophy. Neuromuscul Disord, 1994. 4(5-6): p. 433-45.

80.       Gandolfi, B., et al., A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS One, 2014. 9(10): p. e109926.

81.       Somers, K., et al., Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab. , 2003. 79: p. 99-103.

82.       Mauler, D.A., et al., Precision medicine  in cats: novel Niemann-Pick Type C1 diagnosed by whole genome sequencing. Journal of Veterinary Internal Medicine, 2016. In Press.

83.       Zampieri, S., et al., Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One, 2014. 9(11): p. e112503.

84.       Clavero, S., et al., Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med, 2010. 16(9-10): p. 381-8.

85.       Clavero, S., et al., Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J, 2013. 198(3): p. 720-2.

86.       Clavero, S., et al., Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet, 2010. 19(4): p. 584-96.

87.       Teshima, T., et al., A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report. BMC Vet Res, 2019. 15(1): p. 62.

88.       Geisen, V., K. Weber, and K. Hartmann, Vitamin D-dependent hereditary rickets type I in a cat. J Vet Intern Med, 2009. 23(1): p. 196-9.

89.       Grahn, R.A., et al., A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA. J Feline Med Surg, 2012. 14(8): p. 587-90.