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Publication : Otoconial agenesis in tilted mutant mice.

First Author  Ornitz DM Year  1998
Journal  Hear Res Volume  122
Issue  1-2 Pages  60-70
PubMed ID  9714575 Mgi Jnum  J:49524
Mgi Id  MGI:1277629 Doi  10.1016/s0378-5955(98)00080-x
Citation  Ornitz DM, et al. (1998) Otoconial agenesis in tilted mutant mice. Hear Res 122(1-2):60-70
abstractText  The sense of balance is one of the phylogenetically oldest sensory systems. The vestibular organs, consisting of sensory hair cells and an overlying extracellular membrane, have been conserved throughout vertebrate evolution. To better understand mechanisms regulating vestibular development and mechanisms of vestibular pathophysiology, we have analyzed the mouse mutant, tilted (tlt), which has dysfunction of the gravity receptors. The tilted mouse arose spontaneously and has not been previously analyzed for a developmental or physiological deficit. Here we demonstrate that the tilted mouse, like the head tilt (het) mouse, specifically lacks otoconia and consequently does not sense spatial orientation relative to the force of gravity. Unlike other mouse mutations affecting the vestibular system (such as pallid, mocha and tilted head), the defect in the tilted mouse is highly penetrant, results in the nearly complete absence of otoconia, exhibits no degeneration of the sensory epithelium and has no apparent abnormal phenotype in other organ systems. We further demonstrate that protein expression in the macular sensory epithelium is qualitatively unaltered in tilted mutant mice. (C) 1998 Elsevier Science B.V. All rights reserved.
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