Detection of a point mutation (A to G) in exon 5 of the murine Mgf gene defines a novel allele at the Steel locus with a weak phenotype

Mutat Res. 1997 Sep;382(1-2):75-8. doi: 10.1016/s1383-5726(97)00005-8.

Abstract

A new mutation at the locus encoding the mast cell growth factor (Mgf) is described and designated as MgfSl-3Neu. Homozygous mutants have a light grey fur, sometimes with white patches. Homozygotes are fertile, but with reduced litter size, when mated inter se. Analysis of haematological parameters indicated no difference between mutant and wild-type mice. Sequence analysis of the cDNA obtained from the brain of homozygous mutants revealed an A-->G exchange at position 400 leading to a predicted amino acid exchange from Asn-->Leu at position 122. As a consequence of the predicted amino acid exchange an extension of the alpha-helical context and a decreased hydropathicity of the region at positions 101-125 can be deduced. This single amino acid exchange is outside of the known important domains of MGF and explains the weak phenotype of MgfSl-3Neu.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Animals
  • Crosses, Genetic
  • DNA Mutational Analysis
  • Exons / genetics
  • Genes / genetics
  • Hair Color / genetics*
  • Male
  • Mice
  • Molecular Sequence Data
  • Phenotype
  • Point Mutation / genetics*
  • Stem Cell Factor / chemistry
  • Stem Cell Factor / genetics*
  • Structure-Activity Relationship

Substances

  • Stem Cell Factor

Associated data

  • GENBANK/Y10287