Primary Identifier | MGI:87905 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 11464 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; microfilament motor activity; and myosin binding activity. Acts upstream of or within several processes, including actin-mediated cell contraction; cardiac muscle tissue morphogenesis; and myofibril assembly. Located in I band. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and musculature. Used to study dilated cardiomyopathy 1R. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Orthologous to human ACTC1 (actin alpha cardiac muscle 1). PHENOTYPE: Homozygous null mutation of this gene results in embryonic and postnatal lethality. Animals that survive to birth die within the first 2 weeks and display reduced body size and heart muscle defects. [provided by MGI curators] |