| Primary Identifier | MGI:98779 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 21924 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin filament binding activity. Involved in regulation of ATP-dependent activity and regulation of muscle filament sliding speed. Acts upstream of or within transition between fast and slow fiber. Predicted to be located in contractile muscle fiber. Predicted to be part of cardiac Troponin complex. Is expressed in several structures, including alimentary system; heart; liver; metanephros; and skeletal muscle. Used to study hypertrophic cardiomyopathy 13. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1Z; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 13. Orthologous to human TNNC1 (troponin C1, slow skeletal and cardiac type). PHENOTYPE: Mice homozygous for the p.Ala8Val mutation develop hypertrophic cardiomyopathy with cardiac interstitial fibrosis, myofibrillar disarray, enlarged left atrium, diastolic dysfunction and enhanced systolic function. Aged females show anxiety- and depression-like behaviors and adrenal gland hypertrophy. [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
