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Article

Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice.

Experimental animals - 1 Jan 2013

Miyasaka Yuki, Suzuki Sari, Ohshiba Yasuhiro, Watanabe Kei, Sagara Yoshihiko, Yasuda Shumpei P, Matsuoka Kunie, Shitara Hiroshi, Yonekawa Hiromichi, Kominami Ryo, Kikkawa Yoshiaki

Abstract excerpt

The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by congenital deafness, vestibular dysfunction, and prepubertal onset of progressive retinitis pigmentosa. In mice, functionally null Cdh23 mutations affect stereociliary morphogenesis and the polarity of both cochlear and vestibular hair cells. In contrast, the murine...

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Source

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Identifiers

PMID: 24172198
DOI: 10.1538/expanim.62.333
PMCID: PMC4160959

Genes

ABR
CDH23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice.PMID 24172198Read ↗

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