| Primary Identifier | MGI:95716 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 14613 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling. Involved in artery morphogenesis; cell communication by electrical coupling involved in cardiac conduction; and regulation of cardiac muscle cell action potential. Acts upstream of or within several processes, including cardiac conduction; circulatory system development; and regulation of systemic arterial blood pressure. Located in gap junction. Is expressed in several structures, including cardiovascular system; cerebral cortex; eye posterior segment; limb mesenchyme; and musculature. Used to study tetralogy of Fallot. Human ortholog(s) of this gene implicated in atrial fibrillation; atrial standstill 1; familial atrial fibrillation; and tetralogy of Fallot. Orthologous to human GJA5 (gap junction protein alpha 5). PHENOTYPE: Homozygotes for targeted null mutations exhibit hypertension, cardiac arrhythmias, reduced atrial and ventricular conduction velocities, and impaired conductance of vasodilation in arterioles of skeletal muscle. [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
