Development of the inner ear in Splotch mutant mice.

Abstract excerpt

The Splotch mouse, a Pax 3 mutation, represents a model of Waardenburg syndrome I. We show that the homozygous Splotch mutation (Sp(2H)) is associated with severe defects that prevent the formation of the cochlea and vestibulo-cochlear ganglion. To clarify the role of Pax 3 in inner ear formation, we examined the expression of polysialic acid (PSA) associated with neural cell adhesion molecule (NCAM). In...

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