| Primary Identifier | MGI:1920159 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 234852 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein domain specific binding activity and protein homodimerization activity. Predicted to be involved in several processes, including midbody abscission; regulation of cell cycle process; and vacuolar transport. Predicted to act upstream of or within mitotic chromosome condensation and negative regulation of gene expression. Predicted to be located in several cellular components, including bounding membrane of organelle; condensed chromosome; and microtubule cytoskeleton. Predicted to be part of ESCRT III complex and nuclear pore. Predicted to be active in multivesicular body. Is expressed in central nervous system. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 8. Orthologous to human CHMP1A (charged multivesicular body protein 1A). PHENOTYPE: Homozygous null mice die perinatally exhibiting small size and neurodevelopmental defects including cerebellar, telencephalon and olfactory bulb hypoplasia, microcephaly, thin cerebral cortex, small basal ganglia and reduced neuronal precursor proliferation, with evidence of disrupted Shh signaling. [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
