| First Author | Cartier M | Year | 1992 |
| Journal | Nat Genet | Volume | 2 |
| Issue | 1 | Pages | 42-5 |
| PubMed ID | 1303247 | Mgi Jnum | J:2144 |
| Mgi Id | MGI:50668 | Doi | 10.1038/ng0992-42 |
| Citation | Cartier M, et al. (1992) A frameshift mutation in the gamma E-crystallin gene of the Elo mouse [published erratum appears in Nat Genet 1992 Dec;2(4):343]. Nat Genet 2(1):42-5 |
| abstractText | The murine Elo (eye lens obsolescence) mutation confers a dominant phenotype characterized by malformation of the eye lens. The mutation maps to chromosome 1, in close proximity to the gamma E-crystallin gene which is the 3'-most member of the gamma-crystallin gene cluster. We have analysed the sequence of this gene from the Elo mouse and identified a single nucleotide deletion which destroys the fourth and last Greek key motif of the protein. This mutation is tightly associated with the phenotype, as no recombination was detected in 274 meioses. In addition, the mutant mRNA is present in the affected lens, providing further support for our hypothesis that the deletion is responsible for the dominant Elo phenotype. |
