| Primary Identifier | MGI:95524 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 14184 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables fibroblast growth factor receptor activity and miRNA binding activity. Involved in several processes, including bone maturation; post-anal tail morphogenesis; and response to sodium phosphate. Acts upstream of or within several processes, including MAPK cascade; lens development in camera-type eye; and nervous system development. Located in cytoplasmic side of plasma membrane; lysosome; and perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; respiratory system; sensory organ; and skeleton. Used to study Muenke Syndrome; achondroplasia; hypochondroplasia; scoliosis; and thanatophoric dysplasia. Human ortholog(s) of this gene implicated in several diseases, including SADDAN; acanthosis nigricans; bone disease (multiple); camptodactyly-tall stature-scoliosis-hearing loss syndrome; and carcinoma (multiple). Orthologous to human FGFR3 (fibroblast growth factor receptor 3). PHENOTYPE: Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear. [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
