Article
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
Disease models & mechanisms - 1 Jun 2015
Abdelhamed Zakia A, Natarajan Subaashini, Wheway Gabrielle, Inglehearn Christopher F, Toomes Carmel, Johnson Colin A, Jagger Daniel J
Abstract excerpt
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia,...
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