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Article

Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.

Hearing research - 1 Feb 2024

Verdoodt Dorien, van Wijk Erwin, Broekman Sanne, Venselaar Hanka, Aben Fien, Sels Lize, De Backer Evi, Gommeren Hanne, Szewczyk Krystyna, Van Camp Guy, Ponsaerts Peter, Van Rompaey Vincent, de Vrieze Erik

Abstract excerpt

DFNA9 is a dominantly inherited form of adult-onset progressive hearing impairment caused by mutations in the COCH gene. COCH encodes cochlin, a crucial extracellular matrix protein. We established a genomically humanized mouse model for the Dutch/Belgian c.151C>T founder mutation in COCH. Considering upcoming sequence-specific genetic therapies, we exchanged the genomic murine Coch exons 3-6 for the...

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Identifiers

PMID: 38218018
DOI: 10.1016/j.heares.2023.108947

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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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