Fibroblast Growth Factor 3 (FGFR3) Receptor Knockin Mice

Missense mutations in Fibroblast Growth Factor Receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia.

The NIH announces the generation of FGFR3 knockin mice, which have a Gly369Cys mutation, inserted into the mouse genome. Phenotypic analysis of the mice reveals that the FGF/FGFR3 signals affect both chondrogenesis and osteogenesis by regulating Stat proteins and cell-cycle inhibitors, and the activities of chondrocytes, osteoclasts, and osteoblasts during endochondral ossification. These mice provide a new animal model to study functions of FGF/FGFR3 signals in achondroplasia patients, which could lead to new drug discovery and therapeutic treatments.