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Article

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.

Human molecular genetics - 1 Jan 2003

Teubner Barbara, Michel Vincent, Pesch Jörg, Lautermann Jürgen, Cohen-Salmon Martine, Söhl Goran, Jahnke Klaus, Winterhager Elke, Herberhold Claus, Hardelin Jean-Pierre, Petit Christine, Willecke Klaus

Abstract excerpt

The gap junction protein connexin30 (Cx30) is expressed in a variety of tissues that include epithelial and mesenchymal structures of the inner ear. We generated Cx30 (Gjb6) deficient mice by deletion of the Cx30 coding region. Homozygous mutants (Cx30((-/-))) were born at the expected Mendelian frequency, developed normally and were fertile. However, they exhibit a severe constitutive hearing impairment. From...

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Identifiers

PMID: 12490528
DOI: 10.1093/hmg/ddg001

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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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