Mouse models of human ocular disease for translational research

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Abstract

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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Most cited references 112

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Author and article information

Contributors

Mark P. Krebs:

ORCID: http://orcid.org/0000-0001-9017-6066

Role: Data curationRole: Formal analysisRole: MethodologyRole: SoftwareRole: ValidationRole: VisualizationRole: Writing – original draftRole: Writing – review & editing

Gayle B. Collin:

ORCID: http://orcid.org/0000-0002-3332-0954

Role: Data curationRole: Formal analysisRole: InvestigationRole: MethodologyRole: ValidationRole: VisualizationRole: Writing – original draftRole: Writing – review & editing

Wanda L. Hicks: Role: InvestigationRole: Resources

Minzhong Yu: Role: Data curationRole: InvestigationRole: ValidationRole: VisualizationRole: Writing – review & editing

Jeremy R. Charette: Role: Data curationRole: Formal analysisRole: InvestigationRole: MethodologyRole: SoftwareRole: ValidationRole: Visualization

Lan Ying Shi: Role: Data curationRole: InvestigationRole: MethodologyRole: Validation

Jieping Wang: Role: Data curationRole: InvestigationRole: Validation

Jürgen K. Naggert:

ORCID: http://orcid.org/0000-0001-8213-0869

Role: Funding acquisitionRole: MethodologyRole: Writing – review & editing

Neal S. Peachey: Role: Data curationRole: Funding acquisitionRole: MethodologyRole: SupervisionRole: ValidationRole: VisualizationRole: Writing – original draftRole: Writing – review & editing

Patsy M. Nishina: Role: ConceptualizationRole: Funding acquisitionRole: MethodologyRole: Project administrationRole: SupervisionRole: Writing – original draftRole: Writing – review & editing

Steven Barnes: Role: Editor

Journal

Journal ID (nlm-ta): PLoS One

Journal ID (iso-abbrev): PLoS ONE

Journal ID (publisher-id): plos

Journal ID (pmc): plosone

Title: PLoS ONE

Publisher: Public Library of Science (San Francisco, CA USA )

ISSN (Electronic): 1932-6203

Publication date (Electronic): 31 August 2017

Publication date Collection: 2017

Volume: 12

Issue: 8

Electronic Location Identifier: e0183837

Affiliations

[1 ] The Jackson Laboratory, Bar Harbor, Maine, United States of America

[2 ] Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States of America

[3 ] Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, United States of America

[4 ] Research Service, Louis Stokes Cleveland VA Medical Center, Cleveland, Ohio, United States of America

Dalhousie University, CANADA

Author notes

Competing Interests: The authors have declared that no competing interests exist.

* E-mail: patsy.nishina@ 123456jax.org

Author information

Mark P. Krebs http://orcid.org/0000-0001-9017-6066

Gayle B. Collin http://orcid.org/0000-0002-3332-0954

Jürgen K. Naggert http://orcid.org/0000-0001-8213-0869

Article

Publisher ID: PONE-D-17-02997

DOI: 10.1371/journal.pone.0183837

PMC ID: 5578669

PubMed ID: 28859131

SO-VID: 4eaaebab-061e-404d-8854-4a8fc444e99f

License:

This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

History

Date received : 27 January 2017

Date accepted : 12 August 2017