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Genetics March 2020

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

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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. doi: https://doi.org/10.1167/iovs.61.2.44

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Identification of ocular regulatory functions of core histone variant H3.2 in mouse

Sharmilee Vetrivel; Jochen Graw; Florian Giesert

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3435. doi:

ARVO Annual Meeting Abstract March 2012

Mice with an Induced Mutation in Collagen 8A2 Exhibit Axial Elongation and Are Resistant to Retinal Ganglion Cell Damage in an Experimental Glaucoma Model

Frances E. Cone; Cathy Nguyen; Matthew Steinhart; Thao Nguyen; Mary Pease; Oliver Puk; Jochen Graw; Ericka Oglesby; Harry Quigley

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1748. doi:

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. doi:

Lens September 2011

The KORA Eye Study: A Population-Based Study on Eye Diseases in Southern Germany (KORA F4)

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Jochen Graw; Gerhard Welzl; Nafees Ahmad; Norman Klopp; Margit Heier; Andrea Wulff; Joachim Heinrich; Angela Döring; Stefan Karrasch; Dennis Nowak; Holger Schulz; Wolfgang Rathmann; Thomas Illig; Annette Peters; Rolf Holle; Christa Meisinger; H. Erich Wichmann
TAGS: cataract, eye, eye diseases, germany, glaucoma, diabetes mellitus
Invest. Ophthalmol. Vis. Sci.. 2011; 52(10):7778-7786. doi: https://doi.org/10.1167/iovs.10-7113

Lens April 2011

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

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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. doi: 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

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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. doi: 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?

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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. doi: https://doi.org/10.1167/iovs.09-3451

Lens April 2008

Novel Allele of Crybb2 in the Mouse and Its Expression in the Brain

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Koustav Ganguly; Jack Favor; Angelika Neuhäuser-Klaus; Rodica Sandulache; Oliver Puk; Johannes Beckers; Marion Horsch; Sandra Schädler; Daniela Vogt Weisenhorn; Wolfgang Wurst; Jochen Graw
TAGS: alleles, brain, mice, proteins, crystallins, eye, homozygote, lens (device), cataract, genes
Invest. Ophthalmol. Vis. Sci.. 2008; 49(4):1533-1541. doi: https://doi.org/10.1167/iovs.07-0788

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

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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. doi: 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

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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. doi: https://doi.org/10.1167/iovs.04-1407

Lens October 2004

Mutation Analysis of Congenital Cataracts in Indian Families: Identification of SNPs and a New Causative Allele in CRYBB2 Gene

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Sathiyavedu T. Santhiya; Shyam Manohar Manisastry; Deepika Rawlley; Raghunathan Malathi; Sharmila Anishetty; Puthiya M. Gopinath; Perumalsamy Vijayalakshmi; Perumalsamy Namperumalsamy; Jerzy Adamski; Jochen Graw
TAGS: alleles, congenital cataract, crystallins, family, genes, mutation, mutation analysis, single nucleotide polymorphism, cataract, phenotype
Invest. Ophthalmol. Vis. Sci.. 2004; 45(10):3599-3607. doi: https://doi.org/10.1167/iovs.04-0207

Lens April 2004

Genetic and Allelic Heterogeneity of Cryg Mutations in Eight Distinct Forms of Dominant Cataract in the Mouse

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Jochen Graw; Angelika Neuhäuser-Klaus; Norman Klopp; Paul B. Selby; Jana Löster; Jack Favor
TAGS: cataract, mice, mutation, genes, genetics, crystallins
Invest. Ophthalmol. Vis. Sci.. 2004; 45(4):1202-1213. doi: https://doi.org/10.1167/iovs.03-0811

Retina February 2004

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

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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. doi: https://doi.org/10.1167/iovs.03-0561

Retina February 2003

An In Vivo Doxycycline-Controlled Expression System for Functional Studies of the Retina

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Barbara Angeletti; Jana Löster; Alberto Auricchio; Florian Gekeler; Kei Shinoda; Andrea Ballabio; Jochen Graw; Valeria Marigo
TAGS: animals, transgenic, doxycycline, luciferases, mice, mice, transgenic, retina, rhodopsin, in situ hybridization
Invest. Ophthalmol. Vis. Sci.. 2003; 44(2):755-760. doi: https://doi.org/10.1167/iovs.02-0340

Lens September 2002

Crygf Rop : The First Mutation in the Crygf Gene Causing a Unique Radial Lens Opacity

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Jochen Graw; Norman Klopp; Angelika Neuhäuser-Klaus; Jack Favor; Jana Löster
TAGS: cataract, genes, lens (device), mutation, mice, lens, crystalline, dna
Invest. Ophthalmol. Vis. Sci.. 2002; 43(9):2998-3002. doi:

Physiology and Pharmacology May 2002

Altered Na,K-ATPase Pattern in γ-Crystallin Mutant Mice

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Amy Moseley; Jochen Graw; Nicholas A. Delamere
TAGS: adenosine triphosphatases, crystallins, mice, lens (device), lens, crystalline
Invest. Ophthalmol. Vis. Sci.. 2002; 43(5):1517-1519. doi:

Lens January 2002

A 6-bp Deletion in the Crygc Gene Leading to a Nuclear and Radial Cataract in the Mouse

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Jochen Graw; Angelika Neuhäuser-Klaus; Jana Löster; Jack Favor
TAGS: cataract, genes, mice, lens (device), lens, crystalline, dna, phenotype
Invest. Ophthalmol. Vis. Sci.. 2002; 43(1):236-240. doi:

Lens November 2001

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

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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. doi:

Lens June 2001

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

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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. doi:

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

Identification of ocular regulatory functions of core histone variant H3.2 in mouse

Mice with an Induced Mutation in Collagen 8A2 Exhibit Axial Elongation and Are Resistant to Retinal Ganglion Cell Damage in an Experimental Glaucoma Model

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

The KORA Eye Study: A Population-Based Study on Eye Diseases in Southern Germany (KORA F4)

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

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

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?

Novel Allele of Crybb2 in the Mouse and Its Expression in the Brain

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

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

Mutation Analysis of Congenital Cataracts in Indian Families: Identification of SNPs and a New Causative Allele in CRYBB2 Gene

Genetic and Allelic Heterogeneity of Cryg Mutations in Eight Distinct Forms of Dominant Cataract in the Mouse

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

An In Vivo Doxycycline-Controlled Expression System for Functional Studies of the Retina

Crygf Rop : The First Mutation in the Crygf Gene Causing a Unique Radial Lens Opacity

Altered Na,K-ATPase Pattern in γ-Crystallin Mutant Mice

A 6-bp Deletion in the Crygc Gene Leading to a Nuclear and Radial Cataract in the Mouse

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

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

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