References
Query Results -- Details
MGI Accession ID: MGI:1351717
J Number: J:59482
Other Accession IDs:
Title: Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.
Authors: Chang B; Hawes NL; Roderick TH; Smith RS; Heckenlively JR; Horwitz J; Davisson MT
Journal: Mol Vis
Volume: 5
Issue:
Date: 1999 Sep 10
Year: 1999
Pages: 21
Review Status: Peer Reviewed
Abstract:
PURPOSE: The mouse lop18 (lens opacity 18) mutation causes a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. The mutation maps to mouse Chromosome 17 in close linkage to the alphaA-crystallin (Crya) gene, which encodes one of the major vertebrate eye lens proteins. Here we report the identification of a missense mutation in the alphaA-crystallin gene of lop18/lop18 mutant mice. METHODS: PCR primers were designed based on the alphaA-crystallin gene sequence from GenBank and PCR products were sequenced. RESULTS: We have analysed the sequence of the alphaA-crystallin gene from the lop18/lop18 mouse and identified a missense mutation. This mutation is tightly associated with the cataract phenotype, as no recombination was detected in 112 meioses. CONCLUSIONS: Our results suggest that a missense mutation in the alphaA-crystallin gene is responsible for the lop18/lop18 phenotype and Cryalop18 should be used as a gene symbol for the lop18 mutation.
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