Article
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
Human molecular genetics - 1 Aug 2002
Mitchem Kristina L, Hibbard Ellen, Beyer Lisa A, Bosom Ken, Dootz Gary A, Dolan David F, Johnson Kenneth R, Raphael Yehoash, Kohrman David C
Abstract excerpt
The recessive mutation at the mouse spinner (sr) locus results in hearing loss and vestibular dysfunction due to neuroepithelial defects in the inner ear. Using a positional cloning strategy, we have identified the mutant locus responsible for this pathology. The affected gene (Tmie) lies within a 40 kb deletion in the original sr allele. In a newly identified allele, Tmie contains a nonsense mutation expected to...
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