A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.

ABSTRACT: Mutations of the otoferlin gene have been shown to underlie deafness disorders in humans and mice. Analyses of genetically engineered mice lacking otoferlin have demonstrated an essential role for this protein in vesicle exocytosis at the inner hair cell afferent synapse. Here, we report on the molecular and phenotypic characterization of a new ENU-induced missense mutation of the mouse otoferlin gene designated Otof(deaf5Jcs). The mutation is a single T to A base substitution in exon 10 of Otof that causes a non-conservative amino acid change of isoleucine to asparagine in the C2B domain of the protein. Although strong immunoreactivity with an otoferlin-specific antibody was detected in cochlear hair cells of wildtype mice, no expression was detected in mutant mice, indicating that the mi

SUBMITTER: Longo-Guess C 

PROVIDER: S-EPMC2140949 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature