Primary Identifier | MGI:1339709 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 17883 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP hydrolysis activity; actin filament binding activity; and microfilament motor activity. Predicted to be involved in ATP metabolic process and skeletal muscle contraction. Located in contractile muscle fiber. Part of myosin complex. Is expressed in several structures, including diaphragm; embryo mesenchyme; eye; limb; and skeletal musculature. Human ortholog(s) of this gene implicated in contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B; distal arthrogryposis type 2A; distal arthrogryposis type 2B; and distal arthrogryposis type 2B3. Orthologous to human MYH3 (myosin heavy chain 3). PHENOTYPE: Homozygous knockout is partially embryonic lethal and affects myofiber size, number and type. Conditional KO at embryonic or fetal stages affects differentiation and development of myogenic precursor cells and myoblasts. [provided by MGI curators] |