Abstract
The murine Elo (eye lens obsolesence) mutation confers a dominant phenotype characterized by malformation of the eye lens. The mutation maps to chromosome 1, in close proximity to the γE–crystallin gene which is the 3′–most member of the γ–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.
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Cartier, M., Breitman, M. & Tsui, LC. A frameshift mutation in the γE–crystallin gene of the Elo mouse. Nat Genet 2, 42–45 (1992). https://doi.org/10.1038/ng0992-42
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DOI: https://doi.org/10.1038/ng0992-42
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