International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 26 - GENETIC MAPPING AND ANALYSIS OF HEAD SLANT (hslt), A NOVEL VESTIBULAR MUTANT WITH COMPLETE ABSENCE OF OTOCONIA

Bergstrom D
The Jackson Laboratory

Co-Authors: Gagnon L, Bergstrom R, Schimenti J, Johnson K
Institutions: The Jackson Laboratory

The mammalian inner ear consists of the cochlea (required for auditory sensation) and the vestibular system (required for balance sensation). The vestibular system is comprised of the three semicircular canals that detect angular acceleration, plus the saccule and utricle and their associated maculae that detect linear acceleration. Head-slant (hslt) is a novel, spontaneous mutant of mouse encoding a locus required for the normal development and function of the vestibular system. Head-slant mutant mice display a complete absence of saccular and utricular otoconia, inertial masses that shift during linear acceleration. Deflection of these otoconia along macular hair cells in normal mice generates a signal that is transmitted to the brain. Head-slant mice, which lack these otoconia, display several behaviors consistent with vestibular impairment including circling, an abnormal tilting posture, impaired righting reflexes, and inability to swim.

The head-slant gene resides along the proximal portion of mouse Chromosome 17 within the t complex in an area covered by a set of engineered Chromosome 17 deletions. Head-slant has been mapped recombinationally by a linkage intercross with CAST/Ei. Analysis of 39 F2 progeny indicates that hslt is located between markers D17Mit222 and D17Mit46, approximately 10 cM from the Chromosome 17 centromere.

Current experiments are directed at analyzing hslt candidate genes, identifying the causative mutation, and characterizing the underlying gene.


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