| Literature DB >> 12910270 |
Konrad Noben-Trauth1, Qing Yin Zheng, Kenneth R Johnson.
Abstract
Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele causes in-frame skipping of exon 7. Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice.Entities:
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Year: 2003 PMID: 12910270 PMCID: PMC2864026 DOI: 10.1038/ng1226
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330