Cacna1d (calcium channel, voltage-dependent, L type, alpha 1D subunit)

基因基本信息

Cacna1d 基因表型（MGI）

Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. Homozygosity for an autism spectrum disorder (ASD) related gain-of-function mutation causes delayed inactivation of dendritic Ca2+ channels, which leads to impaired long-term postsynaptic depression of striatal spiny projection neuron synapses.

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