| Primary Identifier | MGI:97549 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18643 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables small GTPase binding activity. Involved in modification of postsynaptic actin cytoskeleton; modulation of chemical synaptic transmission; and synapse maturation. Acts upstream of or within neural tube closure and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; cochlea; hemolymphoid system; liver; and lung. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 18. Orthologous to human PFN1 (profilin 1). PHENOTYPE: Homozygous knockout mice die at early embryonic stages (before E14.5). Some heterozygous mice die either in early embryonic stages or in the perinatal period; animals that survive reach adulthood and are phenotypically normal. Heterozygous MEFs show a high rate of mitotic defects, such as failures in mitotic rounding and cytokinesis. [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
