In other species: Japanese medaka , axolotl , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Rice frog

Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as oculocutaneous albinism (OCA), acromelanism and as the Himalayan coat-colour pattern

Species-specific description: Mae et al. (2020): "Tanuki (Nyctereutes procyonoides viverrinus) ... with complete oculocutaneous albinism are relatively frequent in mountainous areas of mainland Japan." Mae et al. (2020) identified a likely causal complex intragene deletion effecting exon 3 of the TYR gene in a single albino tanuki and the same mutation was reported in a second albino tanuki by Yamamoto et al. (2021).

Molecular basis: Mae et al. (2020) "examined the structure and nucleotide sequence of TYR in an albino tanuki and found that the third exon was removed due to a deletion of approximately 11 kb. ... This deletion was not an absence of a single 11-kb segment: two separate regions of 3.8 kb and 7.3 kb had been removed, but a segment of 0.3 kb between these two regions was retained, though was present in the reverse orientation. ... In addition, two nonsynonymous nucleotide substitutions were found in the fifth exon." Yamamoto et al. (2021) "analyzed TYR of another albino tanuki [Japanese raccoon dog] that was found in Matsusaka, a city located outside the mountainous area. In this animal, the third exon was also lost, and the loss was due to a deletion in which the structure was identical to that of the Iida mutant" described by Mae et al. (2020).

Associated gene: