Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract

Genomics. 2000 Feb 1;63(3):314-20. doi: 10.1006/geno.1999.6054.


A new cataract mutation was discovered in an ongoing program to identify new mouse models of hereditary eye disease. Lens opacity 12 (Lop12) is a semidominant mutation that results in an irregular nuclear lens opacity similar to the human Coppock cataract. Lop12 is associated with a small nonrecombining segment that maps to mouse Chromosome 1 close to the eye lens obsolescence mutation (Cryge(Cat2-Elo)), a member of the gamma-crystallin gene cluster (Cryg). Using a systemic candidate gene approach to analyze the entire Cryg cluster, a G to A transition was found in exon 3 of Crygd associated with the Lop12 mutation and has been designated Crygd(Lop12). The mutation Crygd(Lop12) leads to the formation of an in-frame stop codon that produces a truncated protein of 156 amino acids. It is predicted that the defective gene product alters protein folding of the gamma-crystallin(s) and results in lens opacity.

Publication types

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

MeSH terms

  • Animals
  • Cataract / genetics*
  • Cataract / pathology
  • Chromosome Mapping
  • Crosses, Genetic
  • Crystallins / chemistry
  • Crystallins / genetics*
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Disease Models, Animal*
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mice / genetics*
  • Mice, Inbred BALB C
  • Protein Folding
  • Species Specificity
  • Terminator Regions, Genetic


  • Crystallins
  • DNA, Complementary