May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Choroideremia Mouse Model Generated by Conditional Rep1 Knock–Out
Author Affiliations & Notes
  • M.C. Seabra
    Cell Mol Biol, Div Biomedical Sc, Faculty Medicine, Imperial College London, London, United Kingdom
  • T. Tolmachova
    Cell Mol Biol, Div Biomedical Sc, Faculty Medicine, Imperial College London, London, United Kingdom
  • R. Anders
    Cell Mol Biol, Div Biomedical Sc, Faculty Medicine, Imperial College London, London, United Kingdom
  • M. Abrink
    Department of Molecular Biosciences, BMC, Swedish University of Agricultural Sciences, Uppsala, Sweden
  • J.S. Ramalho
    Centre of Ophthalmology, Biomedical Institute for Research in Light and Image, University of Coimbra, Coimbra, Portugal
  • C. Futter
    Institute of Ophthalmology, University College London, London, United Kingdom
  • F. Tonagel
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Tübingen, Germany
  • N. Tanimoto
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Tübingen, Germany
  • M. Seeliger
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Tübingen, Germany
  • C. Huxley
    Cell Mol Biol, Div Biomedical Sc, Faculty Medicine, Imperial College London, London, United Kingdom
  • Footnotes
    Commercial Relationships  M.C. Seabra, None; T. Tolmachova, None; R. Anders, None; M. Abrink, None; J.S. Ramalho, None; C. Futter, None; F. Tonagel, None; N. Tanimoto, None; M. Seeliger, None; C. Huxley, None.
  • Footnotes
    Support  FFB and CRF
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3556. doi:
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      M.C. Seabra, T. Tolmachova, R. Anders, M. Abrink, J.S. Ramalho, C. Futter, F. Tonagel, N. Tanimoto, M. Seeliger, C. Huxley; Choroideremia Mouse Model Generated by Conditional Rep1 Knock–Out . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3556.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To create a mouse model of Choroideremia (CHM), avoiding the embryonic lethality associated with Rep1 deletion in mice. Methods: We used a conditional knock–out approach based on the Cre/loxP system of site–specific recombination. Initially, a mouse line carrying a Rep13loxP allele was produced and crossed with a transgenic line expressing tamoxifen–regulated MerCreMer transgene, which led to the generation of 3 Rep1 alleles: Rep1flox, Rep1null and Rep1null+Neo inherited by female offspring of tamoxifen–treated Rep13loxP/Y, Cre+ males. Results: Heterozygous null female carriers (Rep1 null/WT and Rep1null+Neo/WT) exhibit characteristic hallmarks of CHM: progressive degeneration of the photoreceptors and patchy depigmentation of the RPE. Similar to cells derived from CHM patients, Rab27a is found selectively underprenylated in tissues derived from these mice. Conclusions: These data demonstrate that Rep1 null/WT female carriers are a valid model of CHM, vital for future studies of disease progression and gene therapy trials.

Keywords: retinal degenerations: cell biology • transgenics/knock-outs • protein modifications-post translational 
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