Article
The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 29 Nov 2006
Donato Roberta, Page Karen M, Koch Dietlind, Nieto-Rostro Manuela, Foucault Isabelle, Davies Anthony, Wilkinson Tonia, Rees Michele, Edwards Frances A, Dolphin Annette C
Abstract excerpt
The mouse mutant ducky and its allele ducky(2J) represent a model for absence epilepsy characterized by spike-wave seizures and cerebellar ataxia. These mice have mutations in Cacna2d2, which encodes the alpha2delta-2 calcium channel subunit. Of relevance to the ataxic phenotype, alpha2delta-2 mRNA is strongly expressed in cerebellar Purkinje cells (PCs). The Cacna2d2(du2J) mutation results in a 2 bp deletion in...
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