Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently

Mech Dev. 1998 Jan;70(1-2):155-66. doi: 10.1016/s0925-4773(97)00188-3.


The mouse microphthalmia (Mitf) gene encodes a basic-helix-loop-helix-zipper transcription factor whose mutations are associated with abnormalities in neuroepithelial and neural crest-derived melanocytes. In wild type embryos, Mitf expression in neuropithelium and neural crest precedes that of the melanoblast marker Dct, is then co-expressed with Dct, and gradually fades away except in cells in hair follicles. In embryos with severe Mitf mutations, neural crest-derived Mitf-expressing cells are rare, lack Dct expression, and soon become undetectable. In contrast, the neuroepithelial-derived Mitf-expressing cells of the retinal pigment layer are retained, express Dct, but not the melanogenic enzyme genes tyrosinase and Tyrp1, and remain unpigmented. The results show that melanocyte development critically depends on functional Mitf and that Mitf mutations affect the neural crest and the neuroepithelium in different ways.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Differentiation
  • DNA-Binding Proteins / genetics*
  • Deafness / genetics
  • Female
  • Gene Expression Regulation, Developmental
  • Genetic Markers
  • Helix-Loop-Helix Motifs / genetics*
  • Humans
  • Male
  • Melanocytes / cytology*
  • Melanocytes / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Microphthalmia-Associated Transcription Factor
  • Mutation*
  • Nervous System / cytology
  • Nervous System / embryology
  • Neural Crest / cytology
  • Pigment Epithelium of Eye / embryology
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • Genetic Markers
  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor
  • Mitf protein, mouse
  • Transcription Factors