Primary Identifier | MGI:2138915 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 98932 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables myosin heavy chain binding activity. Predicted to be involved in myofibril assembly. Located in Z disc and stress fiber. Part of myosin II complex. Is expressed in several structures, including cardiovascular system; central nervous system; genitourinary system; gut; and lung. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy and megacystis-microcolon-intestinal hypoperistalsis syndrome. Orthologous to human MYL9 (myosin light chain 9). PHENOTYPE: Mice homozygous for a null allele die 1 to 4 days after birth with decreased body size and dilated bladder and intestine. Mice homozygous for a conditional allele activated in smooth muscle exhibit premature death with extended duodenum and jejunum, dark liver, and altered vascular and intestinal smooth muscle function. [provided by MGI curators] |