| Primary Identifier | MGI:87906 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 11465 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) A structural constituent of cytoskeleton. Involved in regulation of synaptic vesicle endocytosis. Acts upstream of or within cellular response to type II interferon and sarcomere organization. Located in several cellular components, including basal body patch; myofibril; and phagocytic vesicle. Part of filamentous actin. Is active in Schaffer collateral - CA1 synapse and calyx of Held. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 2 and autosomal dominant nonsyndromic deafness 20. Orthologous to human ACTG1 (actin gamma 1). PHENOTYPE: Mice in which this gene has been conditionally disrupted in muscle tissue display a reduced mobility and classical hind limb contractures when suspended by the tail. Mice homozygous for a null allele exhibit prenatal lethality, premature death, and progressive hearing loss. [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
