title: Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract.
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.
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine 04609, USA. rss@jax.org
authors.forename: R S
authors.initials: RS
authors.lastname: Smith
authors.forename: N L
authors.initials: NL
authors.lastname: Hawes
authors.forename: B
authors.initials: B
authors.lastname: Chang
authors.forename: T H
authors.initials: TH
authors.lastname: Roderick
authors.forename: E C
authors.initials: EC
authors.lastname: Akeson
authors.forename: J R
authors.initials: JR
authors.lastname: Heckenlively
authors.forename: X
authors.initials: X
authors.lastname: Gong
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: M T
authors.initials: MT
authors.lastname: Davisson
mesh_terms: D000818:Animals; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D003459:Crystallins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004195:Disease Models, Animal; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D051379:Mice / Q000235:genetics*; D008807:Mice, Inbred BALB C; D017510:Protein Folding; D013045:Species Specificity; D013728:Terminator Regions, Genetic
chemical_list: D003459:Crystallins; D018076:DNA, Complementary