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Mouse models of human ocular disease for translational research

PloS one, 2017-08, Vol.12 (8), p.e0183837-e0183837

2017

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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Cells (Basel, Switzerland), 2020-04, Vol.9 (4), p.931

2020

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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model

PLoS genetics, 2022-06, Vol.18 (6), p.e1009798

2022

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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

International journal of molecular sciences, 2022-01, Vol.23 (3), p.1615

2022

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NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

Human molecular genetics, 2011-02, Vol.20 (3), p.482-496

2011

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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Annual review of neuroscience, 2003-01, Vol.26, p.657-700

2003

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Defective carbohydrate metabolism in mice homozygous for the tubby mutation

Physiological genomics, 2006-10, Vol.27 (2), p.131-140

2006

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Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction

Experimental eye research, 2009-09, Vol.89 (3), p.365-372

2009

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A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration

The American journal of pathology, 2014-10, Vol.184 (10), p.2721-2729

2014

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An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice

Investigative ophthalmology & visual science, 2012-03, Vol.53 (3), p.1663-1669

2012

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Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair

Investigative ophthalmology & visual science, 2014-01, Vol.55 (1), p.387-395

2014

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An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration

Investigative ophthalmology & visual science, 2011-06, Vol.52 (7), p.4703-4709

2011

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Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis

Experimental eye research, 2014-01, Vol.118, p.30-35

2014

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Human molecular genetics, 2002-08, Vol.11 (16), p.1879-1886

2002

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Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2

Investigative ophthalmology & visual science, 2010-06, Vol.51 (6), p.3264-3272

2010

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A candidate gene for the mouse mutation tubby

Nature (London), 1996-04, Vol.380 (6574), p.534-538

1996

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A Deletion in a Photoreceptor-Specific Nuclear Receptor mRNA Causes Retinal Degeneration in the rd7 Mouse

Proceedings of the National Academy of Sciences - PNAS, 2000-05, Vol.97 (10), p.5551-5556

2000

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The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation

Visual neuroscience, 2006-11, Vol.23 (6), p.917-929

2006

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Translational vision research models program

Advances in experimental medicine and biology, 2012, Vol.723, p.391

2012

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Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Human molecular genetics, 2000-01, Vol.9 (2), p.155-163

2000

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Genetic Modification of Retinal Degeneration in Tubby Mice

Experimental eye research, 2002-04, Vol.74 (4), p.455-461

2002

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Mapping of genetic modifiers of Nr2e3 rd⁷/rd⁷ that suppress retinal degeneration and restore blue cone cells to normal quantity

Mammalian genome, 2008-03, Vol.19 (3), p.145-154

2008

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Mouse genetic approaches to access pathways important in retinal function

Advances in experimental medicine and biology, 2003, Vol.533, p.29

2003

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Towards understanding the function of the tubby gene family in the retina

Advances in experimental medicine and biology, 2003, Vol.533, p.309

2003

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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Human molecular genetics, 2001-08, Vol.10 (16), p.1619-1626

2001

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Mouse models of human ocular disease for translational research

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Defective carbohydrate metabolism in mice homozygous for the tubby mutation

Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction

A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration

An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice

Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration

Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2

A candidate gene for the mouse mutation tubby

A Deletion in a Photoreceptor-Specific Nuclear Receptor mRNA Causes Retinal Degeneration in the rd7 Mouse

The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation

Translational vision research models program

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Genetic Modification of Retinal Degeneration in Tubby Mice

Mapping of genetic modifiers of Nr2e3 rd⁷/rd⁷ that suppress retinal degeneration and restore blue cone cells to normal quantity

Mouse genetic approaches to access pathways important in retinal function

Towards understanding the function of the tubby gene family in the retina

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

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