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A frameshift mutation in the γE–crystallin gene of the Elo mouse

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An Erratum to this article was published on 01 December 1992

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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Authors and Affiliations

  1. Genetics Department, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada

    Mireille Cartier & Lap-Chee Tsui

  2. Division of Cancer and Cell Biology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada

    Martin L. Breitman

  3. Department of Medical Genetics, University of Toronto, Toronto, M5S 1A8, Canada

    Martin L. Breitman & Lap-Chee Tsui

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  1. Mireille Cartier
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  2. Martin L. Breitman
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  3. Lap-Chee Tsui
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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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