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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Noben-Trauth K,Zheng QY,Johnson KRdoi
10.1038/ng1226keywords:
subject
Has Abstractpub_date
2003-09-01 00:00:00pages
21-3issue
1eissn
1061-4036issn
1546-1718pii
ng1226journal_volume
35pub_type
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