Primary Identifier | MGI:1921626 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 74376 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity. Acts upstream of or within cardiac muscle cell development; in utero embryonic development; and vasculogenesis. Located in Z disc. Part of filamentous actin. Is expressed in several structures, including diaphragm; heart; and musculature. Human ortholog(s) of this gene implicated in Klippel-Feil syndrome 4. Orthologous to human MYO18B (myosin XVIIIB). PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities. [provided by MGI curators] |