Figure 5.
Mutations leading to the premature fusion of cranial synchondroses. Chondrocyte-specific deletion of Indian hedgehog (Ihh), fibroblast growth factor receptor (FGFR) mutations (FGFR3369/369, FGFR3G374R/+, FGFR3P244R+/+, FGFR3365/+, FGFR2IIIcP253R, FGFR2IIIc−/−, FGFR2P253R/+), and primary cilia signaling dysregulation (loss of Ellis-van Creveld syndrome protein homolog [EVC] and chondrocyte-specific deletion of Kif3a [a component of the Kinesin-II motor complex] or intraflagellar transport 88 [IFT88]) can all lead to the premature fusion of synchondroses in mice.