The open-eyelid mutation, lidgap-Gates, is an eight-exon deletion in the mouse Map3k1 gene

Genomics. 2005 Jan;85(1):139-42. doi: 10.1016/j.ygeno.2004.10.002.

Abstract

The BALB/cGa mouse strain and its descendants, now called the SELH/Bc strain, have produced two waves of high frequency of spontaneous heritable mutations. One of these, the recessive lidgap-Gates (lg(Ga)) mutation, causes the same open-eyelids-at-birth phenotype as the gene knockout mutations of Map3k1 and co-maps to distal Chr 13. The lg(Ga) mutation is demonstrated to be a 27.5-kb deletion of exons 2-9 in the Map3k1 gene, the first spontaneous mutant allele described at this locus. The lg(Ga) mutation is consistent with a pattern suggesting that the waves of mutation in BALB/cGa and its descendants tend to be large deletions or ETn insertions, whose elevated rate of occurrence is due to an unknown mechanism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosomes / genetics
  • Exons / genetics*
  • Eyelids*
  • MAP Kinase Kinase Kinase 1 / genetics*
  • Mice
  • Mice, Mutant Strains
  • Mutagenesis, Insertional*
  • Sequence Deletion / genetics*

Substances

  • MAP Kinase Kinase Kinase 1