Primary Identifier | MGI:102522 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 12295 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables high voltage-gated calcium channel activity. Acts upstream of or within calcium ion transport and protein targeting to membrane. Located in T-tubule and sarcoplasmic reticulum. Part of voltage-gated calcium channel complex. Is active in presynapse. Is expressed in several structures, including heart; lower leg rest of mesenchyme; nervous system; skeletal musculature; and urinary system. Orthologous to human CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1). PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals have reduced muscle mass, thin limbs, a curved spine, and flexed necks and extremeties. [provided by MGI curators] |