Faculty Research 1990 - 1999

Identification of a missense mutation in the alphaA-crystallin

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Base-Sequence, Cataract, Crystallins, Mice, Mice-Inbred-Strains, Mice-Mutant-Strains, Mutation-Missense, Polymerase-Chain-Reaction, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

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Mol Vis 1999 Sep; 5:21.


R01EY07758/EY/NEI, CA34196/CA/NCI


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.