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Mouse Genetic Approaches to Access Pathways Important in Retinal Function

  • Conference paper
Retinal Degenerations

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 533))

Abstract

Mouse models have been shown to be invaluable for studying ocular diseases and for furthering our understanding of these diseases. With their anatomical, physiological, and genetic similarities to humans, mouse models have proven to be important for identification of genes underlying inherited forms for retinal disease and for providing much needed tissue to study the pathological consequences of disease throughout the lifetime of the animal. In addition, to obtain these disease models we need not wait for spontaneous mutations to occur, new models can be created through the use of induced mutagenesis, transgenesis and homologous recombination. More recently, mouse models have been used to identify pathways in which particular molecules function through the use of genetic modifier screens and the comparison of gene expression or protein levels between mutant and wild-type mice. Such approaches, that are in some cases unique to mouse models, are described briefly in further detail below.

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References

  • Akhmedov, N. B., Piriev, N. I., Chang, B., Rapoport, A. L., Hawes, N. L., et al., 2000, A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in therd7mouseProc Natl AcadSci USA. 97:5551–6.

    Article  CAS  Google Scholar 

  • Blackshaw, S., Fraioli, R. E., Furukawa, T., and Cepko, C. L., 2001, Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genesCell. 107:579–89

    Article  PubMed  CAS  Google Scholar 

  • Chang, B., Hawes, N. L., Hurd, R. E., Davisson, M. T., Nusinowitz, S., and Heckenlively, J. R., 2002, Retinal degeneration mutants in the mouseVision Research. 42:517–525

    Article  PubMed  CAS  Google Scholar 

  • Civelli, O, Nothacker, HP, and Reinscheid, R., 1998, Reverse physiology: discovery of the novel neuropeptide, orphan in FQ/nociceptinCrit Rev Neurobiol. 12:163–76.

    Article  PubMed  CAS  Google Scholar 

  • Danciger, M., Matthes, M. T., Yasamura, D., Akhmedov, N. B., Rickabaugh, T., et al. 2000, A QTL on distal chromosome 3 that influences the severity of light-induced damage to mouse photoreceptorsMamm Genome. 11:422–7.

    Article  PubMed  CAS  Google Scholar 

  • Hagstrom, S. A., Duyao, M., North, M. A., Li, T., 1999, Retinal degeneration in tulpl-/- mice: vesicular accumulation in the interphotoreceptor matrixInvest Ophthalmol Vis Sci. 40: 2795–802.

    PubMed  CAS  Google Scholar 

  • Hagstrom, S. A., North, M. A., Nishina, P. L., Berson, E. L., Dryja, T. P., 1998, Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosaNat Genet. 18: 174–6.

    Article  PubMed  CAS  Google Scholar 

  • Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., et al., 2000, Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.Nat Genet. 24:127–31.

    Article  PubMed  CAS  Google Scholar 

  • Haider, N. B., Naggert, J. K., Nishina, P. M. 2001. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration inrd7/rd7 mice Hum Mol Genet 10:1619–26.

    Article  PubMed  CAS  Google Scholar 

  • Haider, N. B., Ikeda, A., Naggert, J. K., Nishina, P. M., 2002, Genetic modifiers of vision and hearingHum Mol Genet. 11:1195–206.

    CAS  Google Scholar 

  • Heckenlively, J.R., Chang, B., Peng, C., Hawes, N.L., and Roderick, T.H., 1993, Variable expressivity ofrd-3retinal degeneration dependent on background strain, in:Retinal DegenerationJ.G. Hollyfield et al. (eds), Plenum Press, New York, pp. 273–280.

    Chapter  Google Scholar 

  • Heckenlively, J. R., Chang, B., Erway, L. C., Peng, C., Hawes, N. L., Hageman, G. S., Roderick, T. H., 1995, Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 1 1p 15Proc Natl Acad Sci U S A. 92:11100–4.

    Article  PubMed  CAS  Google Scholar 

  • Hinton, D.R., He, S., and Lopez, P.F., 1998, Apoptosis in surgically excised choroidal neovascular membranes in age-related macular degenerationArch Opthalmol. 116:203–209.

    CAS  Google Scholar 

  • Hinuma, S, Onda, H, and Fujino, M., 1999, The quest for novel bioactive peptides utilizing orphan seventransmembrane-domain receptorsJ Mol Med 77: 495–504.

    Article  PubMed  CAS  Google Scholar 

  • Ikeda, A., Zheng, Q. Y., Rosenstiel, P., Maddatu, T., Zuberi, A. R., et al., 1999, Genetic modification of hearing in tubby mice: evidence for the existence of a major gene(moth I)which protects tubby mice from hearing lossHum Mol Genet. 8:1761–7.

    Article  PubMed  CAS  Google Scholar 

  • Ikeda, S., Shiva, N., Ikeda, A., Smith, R. S., Nusinowitz, S., Yan, G., Lin, T. R., Chu, S., Heckenlively, J. R., North, M. A., Naggert, J. K., Nishina, P. M., Duyao, M. P., 2000, Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 geneHum Mol Genet . 9: 155–63.

    Article  PubMed  CAS  Google Scholar 

  • Ikeda, A., Naggert, J. K., Nishina, P. M. 2002. Genetic modification of retinal degeneration in tubby mice.Exp Eye Res 74:455–61.

    Article  PubMed  CAS  Google Scholar 

  • Ikeda, A., Nishina, P. M., Naggert, J. K., 2002a, The tubby-like proteins, a family with roles in neuronal development and functionJ Cell Sci. 115: 9–14.

    CAS  Google Scholar 

  • Livesey, F. J., Furukawa, T., Steffen, M. A., Church, G. M., Cepko, C. L., 2000, Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene CrxCurr BioL 10:301–10

    Article  PubMed  CAS  Google Scholar 

  • Milam, A., Li, Z., and Fariss, R. 1998, Histopathology of the human retina in retinitis pigmentosaProg Retin Eye Res 17:175–205.

    CAS  Google Scholar 

  • Milam, A. H., Rose, L., Cideciyan, A. V., Barakat, M. R., Tang, W. X., et al., 2002, The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationProc Nall Acad Sci USA. 99:473–8.

    Article  CAS  Google Scholar 

  • Morgan, I.G. and Chubb, I.W., 1991, How peptidergic neurons cope with variation in physiological stimulationNeurochem Res. 16:705–14.

    Article  PubMed  CAS  Google Scholar 

  • Naggert, J.K., Fricker, L.D., Varlamov, O., Nishina, P.M., Rouille, Y., Steiner, D.F., Carroll, R.J., Paigen, B.J., and Leiter, E.H., 1995, Hyperproinsulinaemia in obesefat/fatmice associated with a carboxypeptidase E mutation which reduces enzyme activity.Nat Genet. 10:135–42.

    CAS  Google Scholar 

  • Nickells, RW, Schlamp, CL, Newton, AC, and Williams, DS., 1993, Gene expression of the neuropeptide-processing enzyme carboxypeptidase E in rat photoreceptor cellsJNeurochem. 61:1891–900.

    Article  CAS  Google Scholar 

  • Portera-Cailliau, C., Sung, C.H., Nathans, J., and Adler, R., 1994, Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosaProc Nall Acad Sci USA. 91:974–978.

    Article  CAS  Google Scholar 

  • Schlamp, C.L. and Nickells, R.W., 1996, Light and dark cause a shift in the spatial expression of a neuropeptide-processing enzyme in the rat retinaJNeurosci. 16:2164–71.

    CAS  Google Scholar 

  • Weleber, R. G., Carr, R. E., Murphey, W. H., Sheffield, V. C., and Stone, E. M., 1993, Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS geneArch Ophthalmol. 111:1531–42.

    Article  PubMed  CAS  Google Scholar 

  • Wong, P., 1994, Apoptosis, retinitis pigmentosa, and degenerationBiochem Cell Biol. 72: 489–498.

    Article  PubMed  CAS  Google Scholar 

  • Xu, G.Z., Li, W.W., and Tso,M.O., 1996, Apoptosis in human retinal degenerationsTrans Am Ophthal Soc.:411–430

    Google Scholar 

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Nishina, P.M., Naggert, J.K. (2003). Mouse Genetic Approaches to Access Pathways Important in Retinal Function. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_4

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  • DOI: https://doi.org/10.1007/978-1-4615-0067-4_4

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-4909-9

  • Online ISBN: 978-1-4615-0067-4

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