Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase.
Document Type
Article
Publication Date
2004
Keywords
Chromosome-Mapping, Genes-Recessive, Gravity-Perception, Mice, Mice-Mutant-Strains, Morphogenesis, Mutation, NADPH-Oxidase, Proprioception, Vestibular-Diseases, Vestibule
First Page
486
Last Page
491
JAX Source
Genes Dev 2004 Mar; 18(5):486-91.
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.
Recommended Citation
Paffenholz R,
Bergstrom RA,
Pasutto F,
Wabnitz P,
Munroe RJ,
Jagla W,
Heinzmann U,
Marquardt A,
Bareiss A,
Laufs J,
Russ A,
Stumm G,
Schimenti JC,
Bergstrom DE.
Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase. Genes Dev 2004 Mar; 18(5):486-91.