Article
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
Nature genetics - 1 Apr 1996
Colvin J S, Bohne B A, Harding G W, McEwen D G, Ornitz D M
Abstract excerpt
Fibroblast growth factor receptor 3 (Fgfr3) is a tyrosine kinase receptor expressed in developing bone, cochlea, brain and spinal cord. Achondroplasia, the most common genetic form of dwarfism, is caused by mutations in FGFR3. Here we show that mice homozygous for a targeted disruption of Fgfr3 e...
Topics
- Achondroplasia
- Animals
- Bone Diseases, Developmental
- DNA
- Deafness
- Ear, Inner
- Female
- Gene Targeting
- Homozygote
- Humans
- Male
- Mice
- Mice, Transgenic
- Molecular Sequence Data
- Mutation
- Osteogenesis
- Phenotype
- Protein-Tyrosine Kinases
