In other species: dog , domestic cat , ass (donkey) , Arabian camel , taurine cattle , goat

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)

Mendelian trait/disorder: yes

Disease-related: no

Key variant known: yes

Year key variant first reported: 2024

Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism, leucistic"), not by failure in the biochemical reactions required for pigment synthesis.

Molecular basis: Dai et al. (2024) "successfully validated these ... previously identified mutations in MITF [Yusnizar et al., 2015, see OMIA:000214-89462  for details] and detected the KIT gene as another candidate responsible for the manifestation of the white spotting in swamp buffaloes [omia.variant:1725]. ... These mutations jointly explained 95% of the white spotting in swamp buffaloes .... [The authors]  also found evidence for other candidate genes relevant to the white spotting."
Gurao et al. (2024) report an exon 2 deletion in KIT after sequencing mRNA from "skin tissue of Nili Ravi riverine buffalo
with excessive white spotting." The authors concluded that variant was associated with white spotting in htis breed. The underlying change in genomic DNA was not reported.

Breed: Nili-Ravi (Buffalo) (VBO_0000078).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: