References
Query Results -- Details
MGI Accession ID: MGI:2682449
J Number: J:86905
Other Accession IDs:
Title: Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
Authors: Noben-Trauth K; Zheng QY; Johnson KR
Journal: Nat Genet
Volume: 35
Issue: 1
Date: 2003 Sep
Year: 2003
Pages: 21-3
Review Status: Peer Reviewed
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.
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