| Primary Identifier | MGI:1339758 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 12978 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including macrophage colony-stimulating factor receptor activity; protein homodimerization activity; and protein phosphatase binding activity. Involved in several processes, including nervous system development; positive regulation of intracellular signal transduction; and protein phosphorylation. Located in cell surface and plasma membrane. Part of CSF1-CSF1R complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and limb. Human ortholog(s) of this gene implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; diabetes mellitus; gastrointestinal system cancer (multiple); lung cancer (multiple); and renal cell carcinoma. Orthologous to human CSF1R (colony stimulating factor 1 receptor). PHENOTYPE: Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. [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
