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RESEARCH COMMUNICATION
1 Ingenium Pharmaceuticals AG, D-82152 Martinsried, Germany; 2 The Jackson Laboratory, Bar Harbor, Maine 04609 USA; 3 GSF-National Research Center for Environmental Health, Institute of Pathology, 85764, Germany; 4 Genetics Unit, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK
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.
[Keywords: Mouse; vestibular system; otoconia; NADPH oxidase; saccule; utricle]
Received November 26, 2003; revised version accepted February 2, 2004.
E-MAIL deb{at}jax.org; FAX (207) 288-6078.
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