An eye on microphthalmia

Abstract

Microphthalmia-associated transcription factor (MITF) is pivotal for the development of different cell lineages such as melanocytes, retinal pigment epithelial (RPE) cells and osteoclasts. Most of the information on the role of MITF has come from studying the many different mutations at the mouse microphthalmia (mi) locus. Mice that are heterozygous for the original Mitf^mi allele exhibit a white belly spot, whereas homozygotes are completely white, microphthalmic, deaf and osteopetrotic (Steingrimsson et al., 2004).

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