Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

Cell. 1993 Jul 30;74(2):395-404. doi: 10.1016/0092-8674(93)90429-t.


Mice with mutations at the microphthalmia (mi) locus have some or all of the following defects: loss of pigmentation, reduced eye size, failure of secondary bone resorption, reduced numbers of mast cells, and early onset of deafness. Using a transgenic insertional mutation at this locus, we have identified a gene whose expression is disrupted in transgenic animals. This gene encodes a novel member of the basic-helix-loop-helix-leucine zipper (bHLH-ZIP) protein family of transcription factors, is altered in mice carrying two independent mi alleles (mi and miws), and is expressed in the developing eye, ear, and skin, all anatomical sites affected by mi. The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development.

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • DNA-Binding Proteins / genetics*
  • Gene Expression
  • Genetic Complementation Test
  • Humans
  • Leucine Zippers*
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Transgenic / embryology
  • Microphthalmia-Associated Transcription Factor
  • Microphthalmos / genetics*
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Protein Conformation
  • Protein Structure, Secondary
  • Sequence Homology, Amino Acid
  • Tissue Distribution
  • Transcription Factors / genetics
  • Vitiligo / genetics
  • Waardenburg Syndrome / genetics


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

Associated data

  • GENBANK/L14569
  • GENBANK/L19248
  • GENBANK/L19249
  • GENBANK/L33709
  • GENBANK/S60902
  • GENBANK/S60903
  • GENBANK/S60904
  • GENBANK/S60905
  • GENBANK/S60924
  • GENBANK/Z23066