| 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 7.1.0) 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 diaphragm; lower leg rest of mesenchyme; nervous system; skeletal musculature; and tail paraxial mesenchyme. 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
