| Primary Identifier | MGI:2178103 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 192662 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables Rho GDP-dissociation inhibitor activity. Involved in regulation of synaptic vesicle cycle and semaphorin-plexin signaling pathway. Acts upstream of or within Rho protein signal transduction and regulation of protein localization. Located in immunological synapse and nucleus. Is active in Schaffer collateral - CA1 synapse. Is expressed in brain; early nephron; and heart. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 8. Orthologous to human ARHGDIA (Rho GDP dissociation inhibitor alpha). PHENOTYPE: Mice homozygous for a targeted null mutation develop nephrotic syndrome, including renal tubule dilation and degeneration, leading to premature death from renal failure. Male mice are sterile and female mice exhibit reduced fertility from postimplantation defects. [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
