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FLASH GENE
Symbol CEP290 contributors: shn - updated : 21-05-2014
HGNC name centrosomal protein 290kDa
HGNC id 29021
ANIMAL & CELL MODELS
  • rd16 mouse, mutated in Cep290, exhibits early-onset retinal degeneration with autosomal recessive inheritance with considerable deterioration of rod and cone functions
  • Abyssinian cats with Cep290 intronic mutations Shows an autosomal recessive form of retinal degeneration closely resembling human retinitis pigmentosa
  • Knockdown of zebrafish NPHP6 leads to to severe early embryonic developmental defects prior to gastrulation. Embryos are unable to perform epiboly and never reached the gastrulation stage and display defective eye development associated with abnormal structuring of the early brain compartments
  • zebrafish embryos, combined subminimal knockdown of mkks and cep290 produced sensory defects in the eye and inner ear