Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

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Alleles, Animal, Cadherins, Cloning-Organism, Hearing-Loss-Sensorineural, Inheritance-Patterns, Mice, Mice-Inbred-C57BL, Mice-Inbred-CBA, Mice-Inbred-Strains, Polymorphism-Single-Nucleotide

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Nat Genet 2003 Sep; 35(1):21-3.


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.