Vision and hearing loss resulting from a mutation in Ush2a gene


Ryan Crane


Friday, October 1, 2021 - 12:00pm


Via Zoom


Usher syndrome (USH) is the leading cause of combined deafness and blindness worldwide, with mutations in USH2A being the most causative. Studying the mechanism of this debilitating sensory loss remains elusive due to the inability to recapitulate patients’ phenotype in animal models. To overcome this, a USH2A knock-in mouse expressing a common human disease-mutation in Usherin was generated and evaluated. This model exhibited a significant reduction in visual function consistent with late-onset retinitis pigmentosa phenotype seen in USH2A patients. Further, evaluation of the model showed reduced auditory function beginning at early age and persisting throughout the life of the animal, again, consistent with the phenotype regularly seen in patients.