| Primary Identifier | MGI:87904 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 11461 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP hydrolysis activity; Tat protein binding activity; and enzyme binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in regulation of synaptic vesicle endocytosis. Located in several cellular components, including brush border; cortical cytoskeleton; and cytosol. Is active in Schaffer collateral - CA1 synapse and calyx of Held. Is expressed in several structures, including brain; early conceptus; gonad; jaw; and musculature. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 1 and thrombocytopenia. Orthologous to human ACTB (actin beta). PHENOTYPE: Homozygous null mutants are embryonic lethal. Homozygotes for a hypomorphic targeted mutation develop normally until embryonic day 8.5; are growth retarded by day 9.5 and die shortly thereafter. [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
