RP1 is required for the correct stacking of outer segment discs.

@article{Lyubarsky2003RP1IR,
  title={RP1 is required for the correct stacking of outer segment discs.},
  author={Arkady L. Lyubarsky and Jason H Skalet and Edward N Pugh and Eric A. Pierce},
  journal={Investigative ophthalmology & visual science},
  year={2003},
  volume={44 10},
  pages={
          4171-83
        }
}
PURPOSE Mutations in RP1 are a common cause of dominant retinitis pigmentosa (RP), but the mechanism by which the identified mutations lead to photoreceptor cell death and blindness has not been determined. To investigate the function of the RP1 protein in photoreceptors and gain insight into the mechanism of disease, gene-targeting techniques were used to produce mice with a mutant Rp1 allele that mimics the truncation alleles found to cause disease. METHODS RT-PCR was used to amplify… CONTINUE READING
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Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Investigative ophthalmology & visual science • 2000
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