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Glitter AR Glitter, shine in hair coat unpublished unpubllished SV 2 Kb insertion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Orange (O, o+) 001201-9685 X linked Change in pigment hue Unpublish Unpublished 5 Kb deletion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.

References

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

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

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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.

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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.

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