Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9 Universiteit Antwerpen
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 corresponding human sequence. Introducing ...