Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse

Mol Vis. 1999 Sep 10;5:21.

Abstract

Purpose: The mouse lop18 (lens opacity 18) mutation causes a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. The mutation maps to mouse Chromosome 17 in close linkage to the alphaA-crystallin (Crya) gene, which encodes one of the major vertebrate eye lens proteins. Here we report the identification of a missense mutation in the alphaA-crystallin gene of lop18/lop18 mutant mice.

Methods: PCR primers were designed based on the alphaA-crystallin gene sequence from GenBank and PCR products were sequenced.

Results: We have analysed the sequence of the alphaA-crystallin gene from the lop18/lop18 mouse and identified a missense mutation. This mutation is tightly associated with the cataract phenotype, as no recombination was detected in 112 meioses.

Conclusions: Our results suggest that a missense mutation in the alphaA-crystallin gene is responsible for the lop18/lop18 phenotype and Cryalop18 should be used as a gene symbol for the lop18 mutation.

Publication types

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

MeSH terms

  • Animals
  • Base Sequence
  • Cataract / genetics*
  • Crystallins / genetics*
  • Mice
  • Mice, Inbred Strains
  • Mice, Mutant Strains
  • Mutation, Missense
  • Polymerase Chain Reaction

Substances

  • Crystallins