| Primary Identifier | MGI:97847 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 110157 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables MAP kinase kinase kinase activity and small GTPase binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway and nervous system development. Acts upstream of with a positive effect on type B pancreatic cell proliferation. Acts upstream of or within several processes, including cell surface receptor signaling pathway; insulin secretion involved in cellular response to glucose stimulus; and positive regulation of macromolecule metabolic process. Located in pseudopodium. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and immune system. Used to study Noonan syndrome 5. Human ortholog(s) of this gene implicated in Noonan syndrome (multiple); Noonan syndrome with multiple lentigines 2; adenocarcinoma (multiple); and dilated cardiomyopathy 1NN. Orthologous to human RAF1 (Raf-1 proto-oncogene, serine/threonine kinase). PHENOTYPE: Homozygotes for targeted null mutations are growth retarded, with hypocellular fetal livers, placental anomalies, and defects of skin and lungs, resulting in lethality around mid-gestation. Mice heterozygous for a knock-in allele exhibit hypertrophic cardiomyopathy. [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
