Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase.
Chromosome-Mapping, Genes-Recessive, Gravity-Perception, Mice, Mice-Mutant-Strains, Morphogenesis, Mutation, NADPH-Oxidase, Proprioception, Vestibular-Diseases, Vestibule
Genes Dev 2004 Mar; 18(5):486-91.
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.
Paffenholz, R; Bergstrom, R A.; Pasutto, F; Wabnitz, P; Munroe, R J.; Jagla, W; Heinzmann, U; Marquardt, A; Bareiss, A; Laufs, J; Russ, A; Stumm, G; Schimenti, J C.; and Bergstrom, D E., " Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase." (2004). Faculty Research 2000 - 2009. 721.