| Primary Identifier | MGI:97530 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 18595 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables platelet-derived growth factor alpha-receptor activity and platelet-derived growth factor binding activity. Involved in several processes, including circulatory system development; embryonic organ morphogenesis; and protein phosphorylation. Acts upstream of or within several processes, including face morphogenesis; reproductive structure development; and signal transduction involved in regulation of gene expression. Located in several cellular components, including Golgi apparatus; external side of plasma membrane; and microvillus. Is expressed in several structures, including central nervous system; early conceptus; embryo mesenchyme; genitourinary system; and heart and pericardium. Used to study congenital diaphragmatic hernia and scimitar syndrome. Human ortholog(s) of this gene implicated in hematologic cancer (multiple); hypereosinophilic syndrome; and pancreatic cancer. Orthologous to human PDGFRA (platelet derived growth factor receptor alpha). PHENOTYPE: Homozygotes for targeted null mutations exhibit incomplete cephalic closure, increased apoptosis of neural crest cells, impaired myotome and testis formation, abnormal mucosal linings, thoracic skeletal defects, and midgestational lethality. [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
