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FLASH GENE
Symbol NR2E1 contributors: mct/npt/shn - updated : 17-05-2023
HGNC name nuclear receptor subfamily 2, group E, member 1
HGNC id 7973
ANIMAL & CELL MODELS
  • Mice lacking the Nr2e1 gene (Tlx&
  • 8722;/&
    8722;) are viable at birth but adults show a reduction in the size of rhinencephalic and limbic structures, including the olfactory, infrarhinal and entorhinal cortex, amygdala and dentate gyrus
  • Nr2e1-null mice have retinal and optic nerve dystrophy, leading to blindness
  • the extracellular assembly of fibronectin matrices by retinal astrocytes is severely impaired in mice null for Tlx, leading to defective scaffold formation and a complete failure of normal retinal vascular development
  • Significant thinning of neocortex was observed in embryonic d 14.5 TLX-null brains with reduced nestin labeling and decreased cell proliferation in the germinal zone
  • cerebrum and olfactory bulb hypoplasia, hallmarks of the Nr2e1-null phenotype, were not fully corrected in animals harboring one functional copy of human NR2E1 but retinal histology and electroretinograms are completely corrected
  • mice lacking Tlx (Nr2e1(-/-)) display deficits in adult hippocampal neurogenesis and behavioural abnormalities