Table 1.
Disease/trait (alleles) | MOIb | Phenotype | Breeds | Gene | Mutationd |
---|---|---|---|---|---|
Agouti (A, a) [76] | AR | Banded fur to solid | All breeds | ASIP | c.122_123delCA |
Amber (E, e) [77] | AR | Brown color variant | Norwegian forest | MC1R | c.250G > A |
Brown (B, b, bl) [78,79] | AR | Brown, light brown color variants | All breeds | TYRP1 | b = c.8C > G, bl = c.298C > T |
Color (C, cb, cs, c) [79–81] | AR | Burmese, Siamese color pattern, full albino | All breeds | TYR | Cb = c.715G > T, Cs = c.940G > A, c = c.975delC |
Dilution (D, d) [40] | AR | Black to grey/blue, Orange to cream | All breeds | MLPH | c.83delT |
Gloves (G, g) [48] | AR | White feet | Birman | KIT | (Submitted) |
Hairless (Hr, hr) [52] | AR | Atrichia | Sphynx | KRT71 | c.816 + 1G > A |
Long fur (L, l) [49,50] | AR | Long fur | All breedsc | FGF5 | c.356_367insT, c.406C > T, c.474delT, c.475A > C |
Rexing (R, r) | AR | Curly hair coat | Cornish Rex | PYP2R5 | (Submitted) |
Rexing (Re, re) [52] | AR | Curly hair coat | Devon Rex | KRT71 | c.1108-4_1184del, c.1184_1185ins AGTTGGAG, c.1196insT |
AB blood type (A, b) [39] | AR | Determines type B | All breeds | CMAH | c.1del-53_70, c.139G > A |
Gangliosidosis 1 [82] | AR | Lipid storage disorder | Korat, Siamese | GBL1 | c.1457G > C |
Gangliosidosis 2 [83] | AR | Lipid storage disorder | Burmese | HEXB | c.1356del-1_8, c.1356_1362delGTTCTCA |
Gangliosidosis 2 [23] | AR | Lipid storage disorder | Korat | HEXB | c.39delC |
Glycogen storage dis. IV [92] | AR | Glycogen storage disorder | Norwegian forest | GBE1 | IVS11 + 1552_IVS12-1339 del6.2 kb ins334 bp |
Hypertrophic cardiomyopathy [34] | AD | Cardiac disease | Maine Coon | MYBPC | c.93G > C |
Hypertrophic cardiomyopathy [85] | AD | Cardiac disease | Ragdoll | MYBPC | c.2460C > T |
Hypokalemia | AR | Potassium deficiency | Burmese | WNK4 | (Submitted) |
Progressive retinal atropy [86] | AR | Late onset blindness | Abyssinian | CEP290 | IVS50 + 9T > G |
Progressive retinal atropy [87] | AD | Early onset blindness | Abyssinian | CRX | c.546delC |
Polycystic Kidney disease [32] | AD | Kidney cysts | Persian | PKD1 | c.10063C > A |
Pyruvate kinase def.a | AR | Hemopathy | Several | PKLR | c.693 + 304G > A |
Spinal muscular atrophy [88] | AR | Muscular atrophy | Maine Coon | LIX1-LNPEP | Gene deletion |
Unpublished test, presented only as abstract, paper submitted.
Mode of inheritance of the non-wildtype variant.
Long fur variants are more or less common depending on the breed.
Not all transcripts for a given gene may have been discovered or well documented in the cat, mutations presented as interpreted from original publication.