In Cep290 mouse mutants, the rd16 line lacking exons 35 to 39 (in-frame deletion of 897 bp) shows only retinal degeneration, whereas the Cep290 knockout mouse showed retinal degeneration and also hydrocephalus, kidney cysts and cilia axoneme defects (Chang et al., 2006; Hynes et al., 2014; Rachel et al., 2015). The gene discussed is CEP290; the disease is retinal degeneration.