CEP290 and Joubert syndrome and related disorders: Based on these findings, the abnormalities observed in xCEP290-depleted kidneys are thought to reproduce renal pathology of JSRD patients with CEP290 gene mutations, and therefore, xCEP290-depleted embryos can be a useful animal model for studying the molecular mechanism of cyst formation in the kidneys of JSRD patients with CEP290 gene mutations.