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Mutations in  MITF  (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and hypopigmentation. Phenotypes vary significantly within WS2 pedigrees, and there is generally no correlation between the predicted biochemical properties of mutant MITF proteins and disease severity. We have identified a nonsense mutation in the  Mitf  gene of the  anophthalmic white (Wh)  Syrian hamster that destabilizes its mRNA and prevents the encoded basic helix-loop-helix leucine zipper (bHLHzip) protein from dimerizing or binding DNA target sites. Although the resulting polypeptide does not act as a dominant-negative species  in vitro , the  Wh  mutation is inherited as a semi-dominant trait. It thus more closely resembles WS2 than comparable  Mitf  alleles in laboratory mice and rats, which are expressed as purely recessive traits.

Mutation at the Anophthalmia White Locus in Syrian Hamsters: Hploinsufficiency in the Mitf Gene Mimics Human Waardenburg Syndrome Type 2