Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.

@article{Suber1993IrishSD,
  title={Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.},
  author={M L Suber and Steven J. Pittler and Ning Qin and George C. Wright and Vi en N. Holcombe and Rehwa Ho Lee and Cheryl Mae Craft and Richard N. Lolley and Wolfgang Baehr and Richard L. Hurwitz},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1993},
  volume={90 9},
  pages={3968-72}
}
Irish setter dogs affected with a rod/cone dysplasia (locus designation, rcd1) display markedly elevated levels of retinal cGMP during postnatal development. The photoreceptor degeneration commences approximately 25 days after birth and culminates at about 1 year when the population of rods and cones is depleted. A histone-sensitive retinal cGMP phosphodiesterase (PDE; EC 3.1.4.35) activity, a marker for photoreceptor PDEs, was shown previously to be present in retinal homogenates of immature… CONTINUE READING

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