| Primary Identifier | MGI:97272 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 17906 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin monomer binding activity and calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in heart contraction; heart development; and positive regulation of the force of heart contraction. Acts upstream of or within several processes, including cardiac muscle contraction; heart development; and muscle cell fate specification. Located in myofibril. Is expressed in several structures, including aorta; embryo mesoderm; eye; heart; and triceps surae muscle. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy and hypertrophic cardiomyopathy 10. Orthologous to human MYL2 (myosin light chain 2). PHENOTYPE: Mice heterozygous for a knock-in allele exhibit embryonic growth retardation and die between E12.5 and E14.5 with abnormal heart development characterized by a single ventricle, complete absence of the interventricular groove and septum, and a thin myocardium compact layer. [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
