Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
Document Type
Article
Publication Date
2003
Keywords
Alleles, Animal, Cadherins, Cloning-Organism, Hearing-Loss-Sensorineural, Inheritance-Patterns, Mice, Mice-Inbred-C57BL, Mice-Inbred-CBA, Mice-Inbred-Strains, Polymorphism-Single-Nucleotide
First Page
21
Last Page
23
JAX Source
Nat Genet 2003 Sep; 35(1):21-3.
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.
Recommended Citation
Noben TK,
Zheng QY,
Johnson KR.
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 2003 Sep; 35(1):21-3.