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Mouse models of human ocular disease for translational research

Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each carrying a new allele of a gene previously linked to retinal developmenta...

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Autores principales: Krebs, Mark P., Collin, Gayle B., Hicks, Wanda L., Yu, Minzhong, Charette, Jeremy R., Shi, Lan Ying, Wang, Jieping, Naggert, Jürgen K., Peachey, Neal S., Nishina, Patsy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578669/
https://www.ncbi.nlm.nih.gov/pubmed/28859131
http://dx.doi.org/10.1371/journal.pone.0183837
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author Krebs, Mark P.
Collin, Gayle B.
Hicks, Wanda L.
Yu, Minzhong
Charette, Jeremy R.
Shi, Lan Ying
Wang, Jieping
Naggert, Jürgen K.
Peachey, Neal S.
Nishina, Patsy M.
author_facet Krebs, Mark P.
Collin, Gayle B.
Hicks, Wanda L.
Yu, Minzhong
Charette, Jeremy R.
Shi, Lan Ying
Wang, Jieping
Naggert, Jürgen K.
Peachey, Neal S.
Nishina, Patsy M.
author_sort Krebs, Mark P.
collection PubMed
description Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each carrying a new allele of a gene previously linked to retinal developmental and/or degenerative disease. The mutations include four alleles of three genes linked to human nonsyndromic ocular diseases (Aipl1(tvrm119), Aipl1(tvrm127), Rpgrip1(tvrm111), Rho(Tvrm334)) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1(tvrm102), Clcn2(nmf289), Fkrp(tvrm53)). Phenotypic characterization of each model is provided in the context of existing literature, in some cases refining our current understanding of specific disease attributes. These murine models, on fixed genetic backgrounds, are available for distribution upon request and may be useful for understanding the function of the gene in the retina, the pathological mechanisms induced by its disruption, and for testing experimental approaches to treat the corresponding human ocular diseases.
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spelling pubmed-55786692017-09-15 Mouse models of human ocular disease for translational research Krebs, Mark P. Collin, Gayle B. Hicks, Wanda L. Yu, Minzhong Charette, Jeremy R. Shi, Lan Ying Wang, Jieping Naggert, Jürgen K. Peachey, Neal S. Nishina, Patsy M. PLoS One Research Article Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each carrying a new allele of a gene previously linked to retinal developmental and/or degenerative disease. The mutations include four alleles of three genes linked to human nonsyndromic ocular diseases (Aipl1(tvrm119), Aipl1(tvrm127), Rpgrip1(tvrm111), Rho(Tvrm334)) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1(tvrm102), Clcn2(nmf289), Fkrp(tvrm53)). Phenotypic characterization of each model is provided in the context of existing literature, in some cases refining our current understanding of specific disease attributes. These murine models, on fixed genetic backgrounds, are available for distribution upon request and may be useful for understanding the function of the gene in the retina, the pathological mechanisms induced by its disruption, and for testing experimental approaches to treat the corresponding human ocular diseases. Public Library of Science 2017-08-31 /pmc/articles/PMC5578669/ /pubmed/28859131 http://dx.doi.org/10.1371/journal.pone.0183837 Text en © 2017 Krebs et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Krebs, Mark P.
Collin, Gayle B.
Hicks, Wanda L.
Yu, Minzhong
Charette, Jeremy R.
Shi, Lan Ying
Wang, Jieping
Naggert, Jürgen K.
Peachey, Neal S.
Nishina, Patsy M.
Mouse models of human ocular disease for translational research
title Mouse models of human ocular disease for translational research
title_full Mouse models of human ocular disease for translational research
title_fullStr Mouse models of human ocular disease for translational research
title_full_unstemmed Mouse models of human ocular disease for translational research
title_short Mouse models of human ocular disease for translational research
title_sort mouse models of human ocular disease for translational research
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578669/
https://www.ncbi.nlm.nih.gov/pubmed/28859131
http://dx.doi.org/10.1371/journal.pone.0183837
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