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FLASH GENE
Symbol NRL contributors: mct/shn/pgu - updated : 05-04-2016
HGNC name neural retina leucine zipper
HGNC id 8002
ASSOCIATED DISORDERS
corresponding disease(s) RP27
related resource Retinal Information Network
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorialvisualretina
identification of a small NRL promoter/enhancer sequence of <0.3 kb that can specifically direct the target gene to both developing and mature rod photoreceptors should be of interest in the design of adeno-associated virus-based therapies for retinal dis
ANIMAL & CELL MODELS
  • deletion of Nrl in mice results in the complete loss of rod function and super-normal cone function, retina have cone-like nuclear morphology and short, sparse outer segments with abnormal disks
  • Loss of Nrl in mouse leads to a cone-only retina
  • in the Nrl(-/-) mouse retina, photoreceptor precursors fail to produce rods and generate functional cone photoreceptors that predominantly express S-opsin
  • loss of Nrl in mice leads to a cone-only retina with the complete absence of rods