Primary Identifier | MGI:2155600 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 140781 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and actin filament binding activity. Acts upstream of or within cardiac muscle hypertrophy in response to stress and transition between fast and slow fiber. Located in Z disc and stress fiber. Part of myosin complex. Is expressed in several structures, including diaphragm; eye; heart; musculature; and somite. Human ortholog(s) of this gene implicated in cardiomyopathy (multiple); congenital heart disease (multiple); distal myopathy 1; and hyaline body myopathy (multiple). Orthologous to human MYH7 (myosin heavy chain 7). PHENOTYPE: Mice homozygous for an endonuclease-mediated allele exhibit complete embryonic lethality during organogenesis with evidence of heart failure. [provided by MGI curators] |