| First Author | Smith RS | Year | 2000 |
| Journal | Genomics | Volume | 63 |
| Issue | 3 | Pages | 314-20 |
| PubMed ID | 10704279 | Mgi Jnum | J:60856 |
| Mgi Id | MGI:1354024 | Doi | 10.1006/geno.1999.6054 |
| Citation | Smith RS, et al. (2000) Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract. Genomics 63(3):314-20 |
| abstractText | 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. |
