Journal
NATURE GENETICS
Volume 35, Issue 1, Pages 21-23Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1226
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Funding
- NIDCD NIH HHS [R01 DC009246, R01 DC005827-03, R01 DC005827, R01 DC004301, R01 DC004301-05, R21 DC005846-01A1, R21 DC005846, R03 DC004376-01A1] Funding Source: Medline
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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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