Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9989679 | Neurobiology of Disease | 2005 | 14 Pages |
Abstract
A complex mutation in DFNA5, resulting in exon 8 skipping, causes autosomal dominant hearing impairment, which starts in the high frequencies between 5 and 15 years of age and progressively affects all frequencies. To study its function in vivo, Dfna5 knockout mice were generated through the deletion of exon 8, simultaneously mimicking the human mutation. To test the hearing impairment, frequency-specific Auditory Brainstem Response (ABR) measurements were performed at different ages in two genetic backgrounds (C57Bl/6J and CBA/Ca), but no differences between Dfna5â/â and Dfna5+/+ mice could be demonstrated. Morphological studies demonstrated significant differences in the number of fourth row outer hair cells between Dfna5â/â mice and their wild-type littermates. These results were obtained in both genetic backgrounds, albeit with opposite effects. In contrast to the results obtained in Dfna5â/â zebrafish, we did not observe different UDP-glucose dehydrogenase and hyaluronic acid levels in Dfna5â/â mice when compared to Dfna5+/+ mice.
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Authors
Lut Van Laer, Markus Pfister, Sofie Thys, Karen Vrijens, Marcus Mueller, Lieve Umans, Lutgarde Serneels, Luc Van Nassauw, Frank Kooy, Richard J.H. Smith, Jean-Pierre Timmermans, Fred Van Leuven, Guy Van Camp,