| Primary Identifier | MGI:99684 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20192 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ryanodine-sensitive calcium-release channel activity. Acts upstream of or within intracellular calcium ion homeostasis and striated muscle contraction. Located in sarcoplasmic reticulum membrane. Part of junctional membrane complex. Is expressed in several structures, including cardiovascular system; central nervous system; diaphragm; hemolymphoid system; and musculature. Human ortholog(s) of this gene implicated in congenital myopathy 20 and hepatocellular carcinoma. Orthologous to human RYR3 (ryanodine receptor 3). PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task. [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
