title: Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase.
abstract: The vestibular system of the inner ear is responsible for the perception of motion and gravity. Key elements of this organ are otoconia, tiny biomineral particles in the utricle and the saccule. In response to gravity or linear acceleration, otoconia deflect the stereocilia of the hair cells, thus transducing kinetic movements into sensorineural action potentials. Here, we present an allelic series of mutations at the otoconia-deficient head tilt (het) locus, affecting the gene for NADPH oxidase 3 (Nox3). This series of mutations identifies for the first time a protein with a clear enzymatic function as indispensable for otoconia morphogenesis.
authors.affiliation: Ingenium Pharmaceuticals AG, D-82152 Martinsried, Germany.
authors.forename: Rainer
authors.initials: R
authors.lastname: Paffenholz
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Bergstrom
authors.forename: Francesca
authors.initials: F
authors.lastname: Pasutto
authors.forename: Philipp
authors.initials: P
authors.lastname: Wabnitz
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Munroe
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Jagla
authors.forename: Ulrich
authors.initials: U
authors.lastname: Heinzmann
authors.forename: Andreas
authors.initials: A
authors.lastname: Marquardt
authors.forename: Armin
authors.initials: A
authors.lastname: Bareiss
authors.forename: Jürgen
authors.initials: J
authors.lastname: Laufs
authors.forename: Andreas
authors.initials: A
authors.lastname: Russ
authors.forename: Gabriele
authors.initials: G
authors.lastname: Stumm
authors.forename: John C
authors.initials: JC
authors.lastname: Schimenti
authors.forename: David E
authors.initials: DE
authors.lastname: Bergstrom
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D005808:Genes, Recessive; D018466:Gravity Sensing; D051379:Mice; D008817:Mice, Mutant Strains; D009024:Morphogenesis / Q000235:genetics; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics* / Q000502:physiology; D011434:Proprioception; D015837:Vestibular Diseases / Q000201:enzymology / Q000235:genetics*; D014722:Vestibule, Labyrinth / Q000002:abnormalities* / Q000033:anatomy & histology / Q000201:enzymology*
chemical_list: D019255:NADPH Oxidases; C484511:Nox3 protein, mouse