| Primary Identifier | MGI:97531 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 18596 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables platelet-derived growth factor receptor activity and signaling receptor binding activity. Involved in several processes, including positive regulation of intracellular signal transduction; protein phosphorylation; and vasculature development. Acts upstream of or within several processes, including cellular response to hydrogen peroxide; response to ceramide; and ruffle assembly. Located in cell surface; cytoplasm; and ruffle. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; nervous system; and sensory organ. Used to study several diseases, including autism spectrum disorder; basal ganglia calcification; infantile myofibromatosis; myeloproliferative neoplasm; and severe nonproliferative diabetic retinopathy. Human ortholog(s) of this gene implicated in basal ganglia calcification; glioblastoma; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. Orthologous to human PDGFRB (platelet derived growth factor receptor beta). PHENOTYPE: Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities. [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
