| First Author | Chang B | Year | 1999 |
| Journal | Mol Vis | Volume | 5 |
| Pages | 21 | PubMed ID | 10493778 |
| Mgi Jnum | J:59482 | Mgi Id | MGI:1351717 |
| Citation | Chang B, et al. (1999) Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse. Mol Vis 5:21 |
| abstractText | 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. |
