Target

Gene symbol :  
Rpe65
NCBI gene ID :  
19892
Gene full name :  
Retinoid isomerohydrolase RPE65
Synonym :  
RPE65, LRAT-associated protein

Protein function

Protein name :  
RPE65
Essential enzyme in visual cycle converting all-trans-retinol to 11-cis-retinol

Expected phenotype

Visual cycle defects, photoreceptor degeneration

Human disease relevance

Mutations cause Leber congenital amaurosis and retinitis pigmentosa

Model applications

Visual cycle and gene therapy research

Keywords:

Visual cycle, Retina, Photoreceptor

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Rpe65

conditional Knockout mouse

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