Besides hypopigmentation and bilateral HL, the homozygous mutant pig (MITF <sup>L247S/L247S</sup>) and CRISPR/Cas9-mediated MITF bi-allelic knockout pigs both exhibited anophthalmia.
Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).