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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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

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.[1]

References

  1. Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract. Smith, R.S., Hawes, N.L., Chang, B., Roderick, T.H., Akeson, E.C., Heckenlively, J.R., Gong, X., Wang, X., Davisson, M.T. Genomics (2000) [Pubmed]
 
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