| Primary Identifier | MGI:98354 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 20662 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables guanyl-nucleotide exchange factor activity. Involved in cell surface receptor signaling pathway and nervous system development. Acts upstream of or within several processes, including cell surface receptor protein tyrosine kinase signaling pathway; circulatory system development; and regulation of T cell activation. Predicted to be located in cytoplasm and neuronal cell body. Predicted to be part of GTPase complex. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; hemolymphoid system gland; and retina. Used to study Noonan syndrome 4. Human ortholog(s) of this gene implicated in Noonan syndrome; Noonan syndrome 4; atrial heart septal defect; gingival fibromatosis; and pulmonary valve stenosis. Orthologous to human SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). PHENOTYPE: Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene. [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
