title: Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.
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 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.
authors: Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerp, Belgium.
authors: Lut
authors: L
authors: Van Laer
authors: Markus
authors: M
authors: Pfister
authors: Sofie
authors: S
authors: Thys
authors: Karen
authors: K
authors: Vrijens
authors: Marcus
authors: M
authors: Mueller
authors: Lieve
authors: L
authors: Umans
authors: Lutgarde
authors: L
authors: Serneels
authors: Luc
authors: L
authors: Van Nassauw
authors: Frank
authors: F
authors: Kooy
authors: Richard J H
authors: RJ
authors: Smith
authors: Jean-Pierre
authors: JP
authors: Timmermans
authors: Fred
authors: F
authors: Van Leuven
authors: Guy
authors: G
authors: Van Camp
mesh_terms: D000818:Animals; D015153:Blotting, Western; D003051:Cochlea / Q000648:ultrastructure*; D004195:Disease Models, Animal; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D005838:Genotype; D018072:Hair Cells, Auditory, Outer / Q000648:ultrastructure*; D034381:Hearing Loss / Q000151:congenital / Q000473:pathology; D006820:Hyaluronic Acid / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D008855:Microscopy, Electron, Scanning; D011960:Receptors, Estrogen / Q000172:deficiency*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014533:Uridine Diphosphate Glucose Dehydrogenase / Q000378:metabolism; D000094524:Gasdermins
chemical_list: D006820:Hyaluronic Acid; D011960:Receptors, Estrogen; D014533:Uridine Diphosphate Glucose Dehydrogenase; C491747:Gsdme protein, mouse; D000094524:Gasdermins