| Primary Identifier | MGI:95523 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 14183 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables fibroblast growth factor binding activity. Involved in fibroblast growth factor receptor signaling pathway; forebrain generation of neurons; and positive regulation of cell cycle. Acts upstream of or within several processes, including cardiac chamber morphogenesis; lung development; and morphogenesis of an epithelium. Located in excitatory synapse and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Used to study Beare-Stevenson cutis gyrata syndrome; Crouzon syndrome; Pfeiffer syndrome; acrocephalosyndactylia; and intestinal atresia. Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (fibroblast growth factor receptor 2). PHENOTYPE: Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. Heterozygosity for the p.C361Y Crouzon syndrome-associated mutation leads to various craniofacial dysmorphologies such as premature coronal suture closing and short face and head. [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
