| Primary Identifier | MGI:107717 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 17886 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin filament binding activity and protein domain specific binding activity. Involved in several processes, including cortical granule exocytosis; negative regulation of actin filament severing; and positive regulation of protein processing in phagocytic vesicle. Acts upstream of or within several processes, including establishment of T cell polarity; microtubule cytoskeleton organization; and myoblast fusion. Located in several cellular components, including cortical granule; cytoskeleton; and immunological synapse. Part of myosin II complex. Colocalizes with focal adhesion. Is expressed in several structures, including alimentary system; early embryo; heart and pericardium; salivary gland primordium; and sensory organ. Used to study MYH-9 related disease. Human ortholog(s) of this gene implicated in several diseases, including auditory system disease (multiple); autosomal dominant Alport syndrome; blood platelet disease (multiple); end stage renal disease; and orofacial cleft. Orthologous to human MYH9 (myosin heavy chain 9). PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance. Mice homozygous or heterozygous for one of several knock-in alleles exhibit macrothrombocytopenia, nephritis, cataracts and deafness. [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
