June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Lrp5 point mutation underlies retinal dysfunction in Tvrm111B mutant mice
Author Affiliations & Notes
  • Neal S Peachey
    Ophthalmic Research (I-31), Cleveland Clinic Foundation, Cleveland, OH
    Louis Stokes Cleveland VAMC, Cleveland, OH
  • Jeremy R. Charette
    The Jackson Laboratory, Bar Harbor, ME
  • Sarah E. Earp
    Ophthalmic Research (I-31), Cleveland Clinic Foundation, Cleveland, OH
  • Brent A Bell
    Ophthalmic Research (I-31), Cleveland Clinic Foundation, Cleveland, OH
  • Ackert-Bicknell L. Cheryl
    The Jackson Laboratory, Bar Harbor, ME
  • Sujata Rao
    Ophthalmic Research (I-31), Cleveland Clinic Foundation, Cleveland, OH
  • Bela Anand-Apte
    Ophthalmic Research (I-31), Cleveland Clinic Foundation, Cleveland, OH
  • Patsy M Nishina
    The Jackson Laboratory, Bar Harbor, ME
  • Footnotes
    Commercial Relationships Neal Peachey, None; Jeremy Charette, None; Sarah Earp, None; Brent Bell, None; Ackert-Bicknell Cheryl, None; Sujata Rao, None; Bela Anand-Apte, None; Patsy Nishina, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 4259. doi:
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    • Get Citation

      Neal S Peachey, Jeremy R. Charette, Sarah E. Earp, Brent A Bell, Ackert-Bicknell L. Cheryl, Sujata Rao, Bela Anand-Apte, Patsy M Nishina; Lrp5 point mutation underlies retinal dysfunction in Tvrm111B mutant mice. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):4259.

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

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Abstract

Purpose: On an ERG screen of ENU-mutagenized C57BL/6J mice, the Tvrm111B mutant was identified due to a reduced amplitude b-wave component. Here we identify the gene involved and define the retinal phenotype.

Methods: Linkage mapping was used to identify the Tvrm111B gene locus. Retinal electrophysiology was evaluated by ERG. Retinal anatomy was evaluated by optical coherence tomography, fluorescein angiography, and immunohistochemistry. Bone mineral density was measured using peripheral dual-energy X-ray absorptiometry.<br />

Results: The Tvrm111B locus mapped to a region of Chr. 19 that contains Lrp5. Subsequent sequencing identified an insertional mutation for which the functional impact is under investigation. Lrp5tvrm111B mice have a number of vascular abnormalities affecting the deep retinal layers, delayed hyaloid regression, and leakage on fluorescein angiography. Lrp5tvrm111B mice also have significantly decreased bone mass.

Conclusions: When compared to the phenotype of complete loss of function models for Lrp5, that of the Lrp5tvrm111B mutant is less severe. As a result, this model expands the allelic series of Lrp5 mutants, and is available without restriction to the research community.<br />

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