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Journal Articles (10)
Meeting Abstract (2)

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Investigative Ophthalmology & Visual Science (12)

Article Type

Lens (6)
ARVO Annual Meeting Abstract (2)
Genetics (2)
Cornea (1)
Retina (1)

Topics

Genetics (10)
Eye Anatomy and Disorders (9)
Lens (6)
Cornea (2)
Retina (2)
Visual Neuroscience (2)
Biochemistry and Molecular Biology (1)
External Eye Disease (1)
Imaging (1)
Retinal Imaging (1)

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mice (9)
mutation (8)
genes (5)
eye (4)
lens (device) (4)
lens, crystalline (4)
crystallins (3)
phenotype (3)
cornea (2)
heterozygote (2)

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Showing 1 – 12 of 12

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Genetics May 2025

Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies

PDF

Andrew Briere; Peter Vo; Benjamin Yang; David Adams; Takanori Amano; Oana Amarie; Zorana Berberovic; Lynette Bower; Steve D. M. Brown; Samantha Burrill; Soo Young Cho; Sharon Clementson-Mobbs; Abigail D'souza; Mohammad Eskandarian; Ann M. Flenniken; Helmut Fuchs; Valerie Gailus-Durner; Yann Hérault; Martin Hrabe de Angelis; Shundan Jin; Russell Joynson; Yeon Kyung Kang; Haerim Kim; Hiroshi Masuya; Hamid Meziane; Ki-Hoan Nam; Hyuna Noh; Lauryl M. J. Nutter; Marcela Palkova; Jan Prochazka; Miles Joseph Raishbrook; Fabrice Riet; Jason Salazar; Radislav Sedlacek; Mohammed Selloum; Kyoung Yul Seo; Je Kyung Seong; Hae-Sol Shin; Toshihiko Shiroishi; Michelle Stewart; Karen Svenson; Masaru Tamura; Heather Tolentino; Sara Wells; Wolfgang Wurst; Atsushi Yoshiki; Louise Lanoue; K. C. Kent Lloyd; Brian C. Leonard; Michel J. Roux; Colin McKerlie; Ala Moshiri; for The International Mouse Phenotyping Consortium
TAGS: genes, hereditary corneal dystrophy, mice, knockout, phenotype determination, proteins, cornea
Invest. Ophthalmol. Vis. Sci.. 2025; 66(5):7. https://doi.org/10.1167/iovs.66.5.7

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

The Aey80 mutation in the Pax 6 gene causes an age-dependent aniridia phenotype

Karina Hadrian; Wei Zhang; Mert Mestanoglu; Thomas Volatier; Oana V Amarie; Martin M Hrabě de Angelis; Felix Bock; Claus Cursiefen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3668.

Genetics March 2020

Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice

PDF

Xiaohe Yan; Jenny Atorf; David Ramos; Frank Thiele; Susanne Weber; Claudia Dalke; Minxuan Sun; Oliver Puk; Dian Michel; Helmut Fuchs; Matthias Klaften; Gerhard K H. Przemeck; Sibylle Sabrautzki; Jack Favor; Jesús Ruberte; Jan Kremers; Martin Hrabě de Angelis; Jochen Graw; German Mouse Clinic Consortium
TAGS: congenital coloboma of optic disc, gliosis, mice, mutation, optic disk, retina, optic nerve, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2020; 61(2):44. https://doi.org/10.1167/iovs.61.2.44

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Bmpr1b Splice Site Mutation Leads To Optic Nerve Head Degeneration In The Mouse

Jochen Graw; Oliver Puk; Susanne Weber; Sibylle Wagner; Frank Thiele; Gerhard Przemeck; Martin Hrabé de Angelis

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1534.

Lens April 2011

First Mutation in the βA2-crystallin Encoding Gene is Associated with Small Lenses and Age-Related Cataracts

PDF

Oliver Puk; Nafees Ahmad; Sibylle Wagner; Martin Hrabé de Angelis; Jochen Graw
TAGS: cataract, senile, crystallins, genes, lens (device), lens, crystalline, mice, mutation, homozygote
Invest. Ophthalmol. Vis. Sci.. 2011; 52(5):2571-2576. https://doi.org/10.1167/iovs.10-6443

Cornea December 2009

Reduced Corneal Thickness and Enlarged Anterior Chamber in a Novel ColVIIIa2 G257D Mutant Mouse

PDF

Oliver Puk; Claudia Dalke; Julia Calzada-Wack; Nafees Ahmad; Matthias Klaften; Sibylle Wagner; Martin Hrabé de Angelis; Jochen Graw
TAGS: anterior chamber of eye, cornea, mice, eye
Invest. Ophthalmol. Vis. Sci.. 2009; 50(12):5653-5661. https://doi.org/10.1167/iovs.09-3550

Lens September 2009

A New Fgf10 Mutation in the Mouse Leads to Atrophy of the Harderian Gland and Slit-Eye Phenotype in Heterozygotes: A Novel Model for Dry-Eye Disease?

PDF

Oliver Puk; Irene Esposito; Torben Söker; Jana Löster; Birgit Budde; Peter Nürnberg; Dian Michel-Soewarto; Helmut Fuchs; Eckhard Wolf; Martin Hrabé de Angelis; Jochen Graw
TAGS: atrophy, dry eye syndromes, eye, fgf10 protein, human, harderian gland, heterozygote, mice, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2009; 50(9):4311-4318. https://doi.org/10.1167/iovs.09-3451

Lens April 2008

Mutation in a Novel Connexin-like Gene ( Gjf1 ) in the Mouse Affects Early Lens Development and Causes a Variable Small-Eye Phenotype

PDF

Oliver Puk; Jana Löster; Claudia Dalke; Dian Soewarto; Helmut Fuchs; Birgit Budde; Peter Nürnberg; Eckhard Wolf; Martin Hrabé de Angelis; Jochen Graw
TAGS: eye, gap junction protein, genes, lens (device), lens, crystalline, mice, mutation, phenotype, vesicle
Invest. Ophthalmol. Vis. Sci.. 2008; 49(4):1525-1532. https://doi.org/10.1167/iovs.07-1033

Includes: Supplemental Content

Lens December 2005

Three Novel Pax6 Alleles in the Mouse Leading to the Same Small-Eye Phenotype Caused by Different Consequences at Target Promoters

PDF

Jochen Graw; Jana Löster; Oliver Puk; Doris Münster; Nicole Haubst; Dian Soewarto; Helmut Fuchs; Birgit Meyer; Peter Nürnberg; Walter Pretsch; Paul Selby; Jack Favor; Eckhard Wolf; Martin Hrabé de Angelis
TAGS: alleles, eye, mice, mutation, oncogenes, phenotype, exons, polymerase chain reaction, rna, messenger, heterozygote
Invest. Ophthalmol. Vis. Sci.. 2005; 46(12):4671-4683. https://doi.org/10.1167/iovs.04-1407

Retina February 2004

Electroretinography as a Screening Method for Mutations Causing Retinal Dysfunction in Mice

PDF

Claudia Dalke; Jana Löster; Helmut Fuchs; Valerie Gailus-Durner; Dian Soewarto; Jack Favor; Angelika Neuhäuser-Klaus; Walter Pretsch; Florian Gekeler; Kei Shinoda; Eberhart Zrenner; Thomas Meitinger; Martin Hrabé de Angelis; Jochen Graw
TAGS: electroretinography, mice, mutation, screening, pathophysiology, retinal degeneration
Invest. Ophthalmol. Vis. Sci.. 2004; 45(2):601-609. https://doi.org/10.1167/iovs.03-0561

Lens November 2001

Characterization of a New, Dominant V124E Mutation in the Mouse αA-Crystallin–Encoding Gene

PDF

Jochen Graw; Jana Löster; Dian Soewarto; Helmut Fuchs; Birgit Meyer; André Reis; Eckhard Wolf; Rudi Balling; Martin Hrabé de Angelis
TAGS: crystallins, genes, mice, mutation, lens, crystalline, lens (device), homozygote
Invest. Ophthalmol. Vis. Sci.. 2001; 42(12):2909-2915.

Lens June 2001

Aey2 , a New Mutation in the βB2-Crystallin–Encoding Gene of the Mouse

PDF

Jochen Graw; Jana Löster; Dian Soewarto; Helmut Fuchs; André Reis; Eckhard Wolf; Rudi Balling; Martin Hrabé de Angelis
TAGS: crystallins, genes, mice, de novo mutation, lens (device), mutation, lens, crystalline, cataract
Invest. Ophthalmol. Vis. Sci.. 2001; 42(7):1574-1580.

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