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Publication : Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.

First Author  Wilson SM Year  2001
Journal  Genomics Volume  74
Issue  2 Pages  228-33
PubMed ID  11386759 Mgi Jnum  J:69985
Mgi Id  MGI:2135862 Doi  10.1006/geno.2001.6554
Citation  Wilson SM, et al. (2001) Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice. Genomics 74(2):228-33
abstractText  Mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear. Here, we use a positional cloning approach to show that waltzer encodes a novel cadherin (Cdh23), which is most closely related to the Drosophila Fat protein. A single nucleotide deletion in the v(J) allele and a single nucleotide insertion in the v allele are predicted to truncate each protein near the N-terminus and produce a functional null allele. In situ hybridization analysis showed that Cdh23 is expressed in the sensory hair cells of the inner ear, where it has been suggested to be a molecule critical for crosslinking of the stereocilia. In addition, Cdh23 is expressed in the urticulo-saccular foramen,the ductus reuniens, and Reissner's membrane, suggesting that Cdh23 may also be involved in maintaining the ionic composition of the endolymph. Finally, mutations in human CDH23 have recently been described for two loci, DFNB12 and USH1D, which cause nonsyndromic deafness, identifying waltzer as a mouse model for human hearing loss. Copyright 2001 Academic Press.
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