| Primary Identifier | MGI:105058 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 11937 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables calcium ion binding activity. Predicted to be involved in several processes, including calcium ion transport; intracellular calcium ion homeostasis; and regulation of striated muscle contraction. Predicted to act upstream of or within regulation of muscle contraction. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including diaphragm; limb mesenchyme; sciatic nerve; skeletal musculature; and testis. Human ortholog(s) of this gene implicated in Brody myopathy. Orthologous to human ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1). PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology. [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
