Article
The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function.
The Journal of biological chemistry - 8 Mar 2002
Brodbeck Jens, Davies Anthony, Courtney Jo-Maree, Meir Alon, Balaguero Nuria, Canti Carles, Moss Fraser J, Page Karen M, Pratt Wendy S, Hunt Steven P, Barclay Jane, Rees Michele, Dolphin Annette C
Abstract excerpt
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and cerebellar ataxia. A mutation in Cacna2d2, the gene encoding the alpha 2 delta-2 voltage-dependent calcium channel accessory subunit, has been found to underlie the ducky phenotype. The alpha 2 delta-2 mRNA is strongly expressed in cerebellar Purkinje cells. We show that du/du mice have abnormalities in their...
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