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FLASH GENE
Symbol CRB1 contributors: mct/shn - updated : 14-03-2017
HGNC name crumbs homolog 1 (Drosophila)
HGNC id 2343
ASSOCIATED DISORDERS
corresponding disease(s) LCA8 , RP12
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Crb1 natural mouse model (rd8) harbouring the deletion del35-39 display moderate rods an cones degeneration (Mehalow et al, 2003)
  • Crb1(-/-) mice completely lacking any functional Crb1 develop localized lesions where the integrity of the outer limiting membrane is lost and giant half rosettes are formed and exhibit delamination of the photoreceptor layer followed by neuronal cell death in the inner and outer nuclear layers of the retina (van de Pavert et al, 2004)
  • Loss of Crb1 in Mu¨ ller glia cells of Crb1-/- mice resulted in an irregular number and size of their apical villi (van de Pavert et al, 2007)
  • Crb1(C249W) mice showed loss of photoreceptors in the retina, relatively late compared with mice lacking Crb1 (van de Pavert et al, 2007)
  • Crb1-/- mouse retinae develop localized lesions, particularly in the inferior temporal quadrant of the mouse eye, after retinal development
  • spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), with a mutation in the Crb1 gene