Genetic Analyses of the Mouse Deafness Mutations Varitint-Waddler (Va) and Jerker (Espnje) |
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Authors: | Hung J Kim Torrance Jackson Konrad Noben–Trauth |
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Institution: | (1) Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA, US |
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Abstract: | Genetic studies on spontaneous mouse mutants with hearing defects have provided important insights into the function of genes
expressed in inner ear hair cells. Here we report on our genetic analyses of the deaf mutants varitint-waddler (Va) and jerker
(Espnje). A high-resolution genetic map localizes VaJ to a 0.14 ± 0.08 cM region between D3Mit85 and D3Mit259 on distal chromosome
3. By comparative mapping, the human ortholog resides at 1p22.3 between markers D1S3449 and D1S2252. To study the effect of
different genetic backgrounds on the hearing phenotype, Espnje and VaJ were crossed to various inbred strains. Auditory-evoked
brainstem response tests on F2 progeny demonstrate that expression, inheritance, and penetrance of the hearing phenotype are
solely controlled by the mutant allele. To test for a genetic interaction between Espnje and Cdh23v, auditory function was
analyzed in double heterozygotes; no significant increases of thresholds of sound pressure levels were observed. The results
establish the framework for cloning the Va gene and provide valuable insights into the genetics of deafness mutations in the
mouse. |
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