Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

► The Mks1tm1a(EUCOMM)Wtsi mouse develops many of the features of MKS seen in humans. ► Mks1−/− mice have significantly reduced numbers of cilia in vitro and in vivo. ► Mks1−/− mice exhibit de-regulated Wnt signalling in vitro and in vivo. ► Mks1 knockdown in the mouse IMCD3 cell-line leads to an increase in proliferation. ► Mks1−/− embryos exhibit increased proliferation in the cerebellar vermis and kidney.