Vestibular defects in head-tilt mice result from mutations in<i>Nox3</i>, encoding an NADPH oxidase

• Rainer Paffenholz

• Rebecca A. Bergstrom

• Francesca Pasutto

• Philipp Wabnitz

• Robert J. Munroe

• Wolfgang Jagla

• Ulrich Heinzmann

• Andreas Marquardt

• Armin Bareiss

• Jürgen Laufs

• Andreas Russ

• Gabriele Stumm

• John C. Schimenti

• David E. Bergstrom

抄録

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.

収録刊行物

• Genes & Development

  Genes & Development 18 (5), 486-491, 2004-03-01

  Cold Spring Harbor Laboratory

キーワード

• Developmental Biology
• Genetics

詳細情報

• CRID: 1360855570407837312
• NII論文ID: 30018918565
• DOI: 10.1101/gad.1172504
• ISSN: 15495477
• ISSN: 08909369
• Web Site: https://syndication.highwire.org/content/doi/10.1101/gad.1172504
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