| Primary Identifier | MGI:99659 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 20190 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated calcium channel activity. Involved in several processes, including cellular response to caffeine; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; and skeletal muscle fiber development. Acts upstream of or within muscle contraction and release of sequestered calcium ion into cytosol. Located in T-tubule; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including brain; embryo mesenchyme; endocrine gland; heart; and skeletal musculature. Used to study congenital myopathy 1A; congenital myopathy 1B; and malignant hyperthermia. Human ortholog(s) of this gene implicated in congestive heart failure (multiple); intracranial vasospasm; and muscle tissue disease (multiple). Orthologous to human RYR1 (ryanodine receptor 1). PHENOTYPE: Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Compound heterozygosity for the p.Q1971Tfs*49 and p.A4330D mutations affects muscle calcium ion kinetics and leads to reduced body weight and muscle strength. [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
