Journal article
Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice
Genomics (San Diego, Calif.), Vol.74(2), pp.228-233
06/01/2001
DOI: 10.1006/geno.2001.6554
PMID: 11386759
Abstract
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 vJ 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.
Details
- Title: Subtitle
- Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice
- Creators
- Scott M Wilson - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702Deborah B Householder - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702Vincenzo Coppola - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702Lino Tessarollo - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702Bernd Fritzsch - Department of Biomedical Sciences, Creighton University, Omaha, Nebraska, 68178E-Chiang Lee - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702Dee Goss - McLaughlin Research Institute, Great Falls, Montana, 59405George A Carlson - McLaughlin Research Institute, Great Falls, Montana, 59405Neal G Copeland - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702Nancy A Jenkins - Mouse Cancer Genetics Program, National Cancer Institute–Frederick, Frederick, Maryland, 21702
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.74(2), pp.228-233
- DOI
- 10.1006/geno.2001.6554
- PMID
- 11386759
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 06/01/2001
- Academic Unit
- Iowa Neuroscience Institute; Biology; Craniofacial Anomalies Research Center
- Record Identifier
- 9984070863202771
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