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Deafness and retinal degeneration in a novel USH1C knock-in mouse model

Lentz, Jennifer J; Gordon, William C; Farris, Hamilton E; MacDonald, Glen H; Cunningham, Dale E; Robbins, Carol A; Tempel, Bruce L; Bazan, Nicolas G; Rubel, Edwin W; Oesterle, Elizabeth C; Keats, Bronya

Description

Usher syndrome is the leading cause of combined deaf - blindness, but the molecular mechanisms underlying the auditory and visual impairment are poorly understood. Usher I is characterized by profound congenital hearing loss, vestibular dysfunction, and progressive retinitis pigmentosa beginning in early adolescence. Using the c.216G>A cryptic splice site mutation in Exon 3 of the USH1C gene found in Acadian Usher I patients in Louisiana, we constructed the first mouse model that develops both...[Show more]

CollectionsANU Research Publications
Date published: 2010
Type: Journal article
URI: http://hdl.handle.net/1885/33096
Source: Developmental Neurobiology
DOI: 10.1002/dneu.20771

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