Phenotypes

Philipp et al. (2011) reported a "dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss . . . in Fleckvieh cattle"

See also: OMIA:001737-9913 : Coat colour, white spotting, KIT-related in Bos taurus (taurine cattle)

Having access to tissue from just a single affected calf and its normal parents, and having noted the calf's resemblance to disorders in humans (see OMIM links above) and various animal species (including horse {OMIA 000214-9796, OMIA 001688-9796}, cattle {OMIA 000214-9913, OMIA 001680-9913, OMIA 001931-9913}, and dog {OMIA 000214-9615}) due to mutations in the MITF gene, Wiedemar and Drögemüller (2014) sequenced "all exons of the MITF gene in...

see also OMIA:000214-9913 Coat colour, white spotting; OMIA:001680-9913 Coat colour, dominant white with bilateral deafness; and OMIA:001931-9913 Depigmentation associated with microphthalmia for other phenes due to MITF variants in cattle.