The combination of these defects together with ocular lens development defects in Ehd1-null mice on a B6/129 background (Arya P. et al. Manuscript Submitted) pointed to a partial similarity to ciliopathies, a group of genetic diseases in which defective primary cilia formation or function yields a plethora of developmental abnormalities, including the neural tube defects seen in Ehd1-null mice44, 45, 82. This evidence concerns the gene EHD1 and ciliopathy.