| Primary Identifier | MGI:2659071 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 76089 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables guanyl-nucleotide exchange factor activity. Involved in several processes, including G protein-coupled receptor signaling pathway; cellular response to cAMP; and nervous system development. Is active in postsynapse. Is expressed in embryo; olfactory epithelium; yolk sac endoderm; and yolk sac mesenchyme. Human ortholog(s) of this gene implicated in familial adult myoclonic epilepsy 7. Orthologous to human RAPGEF2 (Rap guanine nucleotide exchange factor 2). PHENOTYPE: Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. [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
