Primary Identifier | MGI:106217 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 12290 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including behavioral fear response; regulation of peptide hormone secretion; and visual learning. Part of voltage-gated calcium channel complex. Is active in postsynaptic membrane and presynaptic membrane. Is expressed in central nervous system; dorsal root ganglion; heart; lower jaw molar; and testis. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 69. Orthologous to human CACNA1E (calcium voltage-gated channel subunit alpha1 E). PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators] |