Gene ID | Entry | Entry Name | Protein Name | Type | Information | 216274 | Q6A078 | CE290_MOUSE | Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein homolog) (Nephrocystin-6) | DISRUPTION PHENOTYPE | Knockout mice appear healthy overall with some runting and a retinal degeneration phenotype. During embryonic development, at 16.5 dpc, they show defective midline fusion. Adult animals show a mild foliation defect in the cerebellum. {ECO:0000269|PubMed:21623382}. |
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