Description:
Inventors created a transgenic mouse model of achondroplasia by targeting the expression of activated FGFR3 to growth plate cartilage in mice using regulatory elements from the collagen II gene. As with humans carrying the achondroplasia mutation, the resulting transgenic mice were dwarfed, with axial, appendicular and craniofacial skeletal hypoplasia.
Publication: Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3