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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.

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 Dfna5-/- and Dfna5+/+ mice could be demonstrated. Morphological studies demonstrated significant differences in the number of fourth row outer hair cells between Dfna5-/- 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 Dfna5-/- zebrafish, we did not observe different UDP-glucose dehydrogenase and hyaluronic acid levels in Dfna5-/- mice when compared to Dfna5+/+ mice.[1]


  1. Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. Van Laer, L., Pfister, M., Thys, S., Vrijens, K., Mueller, M., Umans, L., Serneels, L., Van Nassauw, L., Kooy, F., Smith, R.J., Timmermans, J.P., Van Leuven, F., Van Camp, G. Neurobiol. Dis. (2005) [Pubmed]
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