The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.

ABSTRACT: Mutations in GJB2 (Gap junction protein beta 2) are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations. Owing to the homozygous lethality of Gjb2 mutations in mice, there are currently no perfect mouse models carrying Gjb2 mutations derived from patients for mimicking human hereditary deafness and for unveiling the pathogenesis of the disease. Here, we successfully constructed heterozygous Gjb2^+/35delG and Gjb2^+/235delC mutant mice through advanced androgenic haploid embryonic stem cell (AG-haESC)-mediated semi-cloning technology, and these mice showed normal hearing at postnatal day (P) 28. A homozygous mutant mouse model, Gjb2^{35delG/35delG}, was then generated using enhanced tetraploid

SUBMITTER: Li Q 

PROVIDER: S-EPMC10182940 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature