The Rat Microphthalmia-Associated Transcription Factor Gene (Mitf) Maps at 4q34-q41 and Is Mutated in the Mib Rats

Mamm Genome. 1998 Aug;9(8):617-21. doi: 10.1007/s003359900832.

Abstract

The rat gene encoding the microphthalmia-associated transcription factor (Mitf) was assigned to rat Chromosome (Chr) 4q34-q41, as well as the Gata2 and Mem1 genes. Rat Chr 4 is homologous to mouse Chr 6 and human Chr 3, which carry the Mitf (MITF) gene in these species (MMU 6, 40.0 cM, and HSA 3p14.1-p12.3). mib/mib rats, which are characterized by depigmentation, microphtalmy, osteopetrosis, and neurological disorders were shown to bear a deletion covering several kilobases of genomic DNA in the Mitf gene and to lack Mitf mRNA. The Mitf mutation in the mib/mib rats is thus very likely to be a Mitf null mutation, causing a phenotype similar to the one observed in the miVGA-9 mice, but including osteopetrosis as an additional feature.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 3
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / genetics*
  • Genetic Markers
  • Humans
  • Hybrid Cells
  • Mice
  • Microphthalmia-Associated Transcription Factor
  • Microphthalmos / genetics*
  • Polymerase Chain Reaction
  • Rats
  • Rats, Mutant Strains
  • Transcription Factors / genetics*

Substances

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