| Primary Identifier | MGI:95522 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 14182 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SH2 domain binding activity; fibroblast growth factor binding activity; and fibroblast growth factor receptor activity. Involved in several processes, including cementum mineralization; diphosphate metabolic process; and forebrain development. Acts upstream of or within several processes, including ear development; positive regulation of cell population proliferation; and regulation of animal organ morphogenesis. Located in plasma membrane. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study Pfeiffer syndrome; atopic dermatitis; and otitis media. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); carcinoma (multiple); hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1). PHENOTYPE: Homozygotes for targeted null mutations die around gastrulation and show defective patterning of axial structures. Hypomorphic and selectively ablated mutations exhibit a wide range of abnormalities affecting diverse structures. [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
