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Article

Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.

Genes, brain, and behavior - 1 Nov 2007

Xie G, Clapcote S J, Nieman B J, Tallerico T, Huang Y, Vukobradovic I, Cordes S P, Osborne L R, Rossant J, Sled J G, Henderson J T, Roder J C

Abstract excerpt

Dominant mutations of the P/Q-type Ca(2+) channel (CACNA1A) underlie several human neurological disorders, including episodic ataxia type 2, familial hemiplegic migraine 1 (FHM1) and spinocerebellar ataxia 6, but have not been found previously in the mouse. Here we report the first dominant ataxic mouse model of Cacna1a mutation. This Wobbly mutant allele of Cacna1a was identified in an ethylnitrosourea (ENU)...

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PMID: 17376154
DOI: 10.1111/j.1601-183X.2007.00302.x

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