Lop12, a mutation in mouse crygd causing lens opacity similar to human coppock cataract [In Process Citation]
Document Type
Article
Publication Date
2000
First Page
314
Last Page
320
JAX Source
Genomics 2000 Feb; 63(3):314-20.
Abstract
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. Copyright 2000 Academic Press.
Recommended Citation
Smith RS,
Hawes NL,
Chang B,
Roderick TH,
Akeson EC,
Heckenlively JR,
Gong X,
Wang X,
Davisson MT.
Lop12, a mutation in mouse crygd causing lens opacity similar to human coppock cataract [In Process Citation] Genomics 2000 Feb; 63(3):314-20.