| Primary Identifier | MGI:97255 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 17888 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables microfilament motor activity. Involved in cardiac muscle contraction. Acts upstream of or within several processes, including adult heart development; muscle cell development; and regulation of heart contraction. Located in Z disc and stress fiber. Part of myosin complex. Is expressed in several structures, including brown fat; embryo mesenchyme; great vessel of heart; heart; and skeletal musculature. Used to study dilated cardiomyopathy; dilated cardiomyopathy 1EE; and hypertrophic cardiomyopathy 14. Human ortholog(s) of this gene implicated in atrial heart septal defect (multiple); heart conduction disease (multiple); and intrinsic cardiomyopathy (multiple). Orthologous to human MYH6 (myosin heavy chain 6). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. [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
