title: A frameshift mutation in the gamma E-crystallin gene of the Elo mouse.
abstract: 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.
authors.affiliation: Genetics Department, Hospital for Sick Children, Toronto, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Cartier
authors.forename: M L
authors.initials: ML
authors.lastname: Breitman
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D000818:Animals; D001483:Base Sequence; D003459:Crystallins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D015870:Gene Expression; D007908:Lens, Crystalline / Q000002:abnormalities; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data
chemical_list: D003459:Crystallins; D004247:DNA