Article
V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Aug 2002
Graw Jochen, Löster Jana, Soewarto Dian, Fuchs Helmut, Reis André, Wolf Eckhard, Balling Rudi, Hrabé de Angelis Martin
Abstract excerpt
During a large-scale ENU mutagenesis screen, a mouse mutant with a dominant cataract was detected and referred to as Aey4. Aim of this study was the morphological description of the mutant, the mapping of the mutation, and the characterization of the underlying molecular lesion. The slit-lamp examination revealed a strong nuclear cataract surrounded by a homogeneous milky opacity in the inner cortex. The...
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