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Article

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

Nature genetics - 1 Jan 2001

Di Palma F, Holme R H, Bryda E C, Belyantseva I A, Pellegrino R, Kachar B, Steel K P, Noben-Trauth K

Abstract excerpt

Mouse chromosome 10 harbors several loci associated with hearing loss, including waltzer (v), modifier-of deaf waddler (mdfw) and Age-related hearing loss (Ahl). The human region that is orthologous to the mouse 'waltzer' region is located at 10q21-q22 and contains the human deafness loci DFNB12 and USH1D). Numerous mutations at the waltzer locus have been documented causing erratic circling and hearing loss....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11138008
DOI: 10.1038/83660

Genes

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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Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.PMID 11138008Read ↗

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.Semantic proximity Read ↗

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Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.Semantic proximity Read ↗

An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v).Semantic proximity Read ↗

Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region.Semantic proximity Read ↗

Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Semantic proximity Read ↗

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.Semantic proximity Read ↗

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.Semantic proximity Read ↗

A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata.Semantic proximity Read ↗

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