| 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 9.1.0) Enables guanyl-nucleotide exchange factor activity and protein kinase binding 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 neuronal cell body. Predicted to be part of GTPase complex. Predicted to be active in several cellular components, including glutamatergic synapse; plasma membrane; and postsynaptic density. Is expressed in several structures, including 2-cell stage conceptus; 8-cell stage conceptus; blastocyst-stage conceptus; central nervous system; and hemolymphoid system gland. 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
