Novel ENU-induced eye mutations in the mouse: models for human eye disease.

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Human Molecular Genetics

• Publication date

  2002-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/11.7.755PMID 11929848
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

  2002cited by this paper
• Update on the molecular genetics of retinitis pigmentosa

  2001cited by this paper
• The sequence of the human genome (abstract only)

  2001cited by this paper
• The Sequence of the Human Genome

  2001cited by this paper
• Functional Annotation of Mouse Genome Sequences

  2001cited by this paper
• Nrl is required for rod photoreceptor development

  2001cited by this paper
• World blindness: a 21st century perspective

  2001cited by this paper
• Systematic approaches to mouse mutagenesis.

  2001cited by this paper
• A comparison of the Celera and Ensembl predicted gene sets reveals little overlap in novel genes.

  2001cited by this paper
• Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.

  2001cited by this paper
• Initial sequencing and analysis of the human genome

  2001cited by this paper
• A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

  2000influential reference
• Genealogies of mouse inbred strains

  2000cited by this paper
• Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

  2000influential reference
• Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

  2000cited by this paper
• Schwann cell grafting into the retina of the dystrophic RCS rat limits functional deterioration. Royal College of Surgeons.

  2000cited by this paper
• Genome-wide, large-scale production of mutant mice by ENU mutagenesis

  2000cited by this paper
• Mutation in the PAX6 gene in twenty patients with aniridia

  2000cited by this paper
• HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.

  2000cited by this paper
• Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus

  2000influential reference
• Mouse ENU mutagenesis.

  1999influential reference
• Dosage requirement of Pitx2 for development of multiple organs.

  1999cited by this paper
• Retinopathy and attenuated circadian entrainment in Crx-deficient mice

  1999cited by this paper
• Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice

  1999cited by this paper
• Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding.

  1999cited by this paper
• A new set of primers for mutation analysis of the human PAX6 gene

  1998cited by this paper
• Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

  1998cited by this paper
• The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

  1998cited by this paper
• Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors.

  1998cited by this paper
• Retinopathy induced in mice by targeted disruption of the rhodopsin gene

  1997cited by this paper
• PAX6 missense mutation in isolated foveal hypoplasia

  1996cited by this paper
• The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.

  1996cited by this paper
• Cloning of the cDNA for a Novel Photoreceptor Protein (*)

  1996cited by this paper
• Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

  1996cited by this paper
• Insight into the microphthalmia gene.

  1995cited by this paper
• Strain-dependent epithelial defects in mice lacking the EGF receptor.

  1995cited by this paper
• Molecular genetics of retinitis pigmentosa.

  1995cited by this paper
• High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA.

  1995cited by this paper
• Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

  1995cited by this paper
• Hereditary disease as a cause of childhood blindness: regional variation. Results of blind school studies undertaken in countries of Latin America, Asia and Africa.

  1995cited by this paper
• Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype.

  1995cited by this paper
• PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse.

  1994cited by this paper
• The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase.

  1994cited by this paper
• Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus.

  1994cited by this paper
• PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

  1994cited by this paper
• Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation.

  1993cited by this paper
• TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice.

  1993cited by this paper
• TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice

  1993cited by this paper
• Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation

  1993cited by this paper
• Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

  1993cited by this paper
• Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

  1992cited by this paper
• A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

  1992cited by this paper
• Mouse Small eye results from mutations in a paired-like homeobox-containing gene

  1991cited by this paper
• Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse.

  1991cited by this paper
• Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions.

  1990cited by this paper
• Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

  1989cited by this paper
• Induction and manifestation of hereditary cataracts.

  1985cited by this paper
• Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea.

  1982cited by this paper
• The retinal origin of uncrossed optic nerve fibres in rats and their role in visual discrimination

  1979cited by this paper
• Differential effect of the rd mutation on rods and cones in the mouse retina.

  1978cited by this paper
• Progressive bilateral essential iris atrophy.

  1977cited by this paper
• Unusual aspects of progressive essential iris atrophy.

  1974cited by this paper
• Familial bilateral essential iris atrophy (Group 2).

  1962cited by this paper

• Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment

  2026cites this paper
• Pyruvate and Related Energetic Metabolites Modulate Resilience Against High Genetic Risk for Glaucoma

  2025cites this paper
• Pyruvate and related energetic metabolites modulate resilience against high genetic risk for glaucoma

  2025cites this paper
• A Dominant Mutation in Gαs‐Protein Increases Hair Pigmentation

  2025cites this paper
• A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome.

  2025cites this paper
• Collagen IV in Gould syndrome and Alport syndrome

  2025influential citation
• Biomechanical and compositional basement membrane defects due to a Col4a1 mutation affect cardiac morphology and function.

  2025cites this paper
• The Microphthalmia-Associated Transcription Factor (MITF) and Its Role in the Structure and Function of the Eye

  2024influential citation
• Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment

  2024cites this paper
• Rodent Models of Retinal Degeneration: From Purified Cells in Culture to Living Animals.

  2023cites this paper
• PAX6 disease models for aniridia

  2022cites this paper
• Toxicological and Teratogenic Effect of Various Food Additives: An Updated Review

  2022cites this paper
• Thirty Years’ History since the Discovery of Pax6: From Central Nervous System Development to Neurodevelopmental Disorders

  2022cites this paper
• Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.

  2022cites this paper
• Elevated TGFβ Signaling Contributes to Cerebral Small Vessel Disease in Mouse Models of Gould Syndrome.

  2022cites this paper
• Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.

  2021cites this paper
• Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions.

  2021cites this paper
• Animal and cellular models of microphthalmia

  2021cites this paper
• New focus on regulation of the rod photoreceptor phosphodiesterase.

  2021cites this paper
• Myelin regulatory factor deficiency is associated with the retinal photoreceptor defects in mice

  2021cites this paper
• Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice

  2020cites this paper
• PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance

  2020cites this paper
• PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance

  2020cites this paper
• Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome

  2020cites this paper
• Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse

  2019cites this paper
• Missense Mutations in the Human Nanophthalmos Gene TMEM 98 Cause Retinal Defects in the Mouse

  2019influential citation
• A long noncoding RNA cluster-based genomic locus maintains proper development and visual function

  2019cites this paper
• The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

  2019cites this paper
• Deciphering regulatory networks in the mouse genome

  2019cites this paper
• Leaves of Acer palmatum thumb. Rescues N-ethyl-N-nitrosourea (ENU)-Induced retinal degeneration in mice.

  2018cites this paper
• Deconstructing Gene Function through ENU Mutagenesis

  2018cites this paper
• From eyeless to neurological diseases.

  2017cites this paper
• A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways

  2017cites this paper
• Genetic modifiers as relevant biological variables of eye disorders

  2017cites this paper
• Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

  2017cites this paper
• Development of a novel mouse model for the colorectal cancer risk locus at Xp22.2

  2016cites this paper
• Pax6: Funktionen entlang der rostro-kaudalen Achse des Neuralrohrs

  2016cites this paper
• Identification of Thrombosis Modifier Genes Using ENU Mutagenesis in the Mouse.

  2016cites this paper
• Analysis of compound heterozygotes reveals that the mouse floxed Pax6tm1Ued allele produces abnormal eye phenotypes

  2016cites this paper
• Functional dissection of the Pax6 paired domain: Roles in neural tube patterning and peripheral nervous system development.

  2016cites this paper
• Transcription factor Pax6 regulates cell cycle progression and cell fate determination

  2015influential citation
• Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep

  2015cites this paper
• Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

  2015cites this paper
• Author ’ s Accepted Manuscript Functional dissection of the Pax 6 paired domain : Roles in neural tube patterning and peripheral nervous system development

  2015influential citation
• Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.

  2015cites this paper
• PAX6 does not regulate Nfia and Nfib expression during neocortical development

  2015cites this paper
• Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)

  2015cites this paper
• Gene regulation by PAX6: Structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204

  2014cites this paper
• A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

  2014cites this paper
• Identification of causative pathogens in mouse eyes with bacterial keratitis by sequence analysis of 16S rDNA libraries

  2014cites this paper
• Correction: A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

  2014cites this paper
• Neural Crest Cells in Ocular Development

  2014cites this paper
• In vivo and in vitro analysis of Dll1 and Pax6 function in the adult mouse pancreas

  2014cites this paper
• ENU mutation mapped to a distal region of chromosome 11 is a major determinant of bone size.

  2013cites this paper
• Pax6 Interactions with Chromatin and Identification of Its Novel Direct Target Genes in Lens and Forebrain

  2013cites this paper
• Lens density tracking in mice by Scheimpflug imaging

  2013cites this paper
• Mutations with Hair Shape Phenotypes Abnormalities—The Morphogenetic Waves and Related Diseases

  2013cites this paper
• Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation

  2013cites this paper
• A reciprocal translocation dissects roles of Pax6 alternative promoters and upstream regulatory elements in the development of pancreas, brain, and eye

  2013cites this paper
• Col 4 a 1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell

  2012cites this paper
• Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.

  2012cites this paper
• Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a)

  2012influential citation
• Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human Filamin A (FLNA) diseases

  2012cites this paper
• An ENU-Induced Mutation of Nrg1 Causes Dilated Pupils and a Reduction in Muscarinic Receptors in the Sphincter Pupillae

  2011cites this paper
• DEFINING THE ROLE OF EGFR ACETYLATION IN CELLULAR PROCESSES: CLINICAL IMPLICATIONS

  2011cites this paper
• Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene

  2011cites this paper
• Mouse phenotyping.

  2011cites this paper
• Tendon Is Covered by a Basement Membrane Epithelium That Is Required for Cell Retention and the Prevention of Adhesion Formation

  2011cites this paper
• Towards an Understanding of the Mechanisms of Acellular Zone Formation in Sutured Tendons

  2011cites this paper
• Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration.

  2011cites this paper
• The waved with open eyelids (woe) Locus Is a Hypomorphic Mouse Mutation in Adam17

  2010cites this paper
• Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.

  2010cites this paper
• Novel cataract mouse model using ddY strain: hereditary and histological characteristics.

  2010cites this paper
• A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment

  2010cites this paper
• Genome-wide ENU Mutagenesis for the Discovery of Novel Male Fertility Regulators

  2010cites this paper
• Cutaneous consequences of inhibiting EGF receptor signaling in vivo: normal hair follicle development, but retarded hair cycle induction and inhibition of adipocyte growth in Egfr(Wa5) mice.

  2010cites this paper
• The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

  2010cites this paper
• Deconstructing Gene Function through ENU Mutagenesis

  2010cites this paper
• Molecular characteristics of inherited congenital cataracts.

  2010cites this paper
• Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development.

  2009cites this paper
• Animal Models in Eye Research

  2009cites this paper
• RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.

  2009cites this paper
• Structural basis of phosphodiesterase 6 inhibition by the C‐terminal region of the γ‐subunit

  2009cites this paper
• 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?

  2009cites this paper
• Mapping and phenotyping genes in the Del(13)Svea36H region of mouse chromosome 13

  2009cites this paper
• Features and strategies of ENU mouse mutagenesis.

  2009cites this paper
• Mutational analysis of the eyeless gene and phenotypic rescue reveal that an intact Eyeless protein is necessary for normal eye and brain development in Drosophila.

  2009cites this paper
• Drug Pharmacology: Pharmacodynamics (Smith,

  2009cites this paper
• The functional annotation of mammalian genomes: the challenge of phenotyping.

  2009cites this paper
• Mouse models of cataract

  2009cites this paper
• SMALL CASE SERIES

  2008cites this paper
• Mouse Models of the Cornea and Lens: Understanding Ocular Disease

  2008cites this paper
• Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.

  2008cites this paper
• Variation of the response to the optokinetic drum among various strains of mice.

  2008cites this paper
• Precision animal breeding

  2008cites this paper
• Edinburgh Research Explorer Precision animal breeding

  2008cites this paper
• ENU mutagenesis, a way forward to understand gene function.

  2008cites this paper
• Relationship of Pax6 Activity Levels to the Extent of Eye Development in the Mouse, Mus musculus

  2008cites this paper
• Removing the cloak of invisibility: phenotyping the mouse

  2008cites this paper
• Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence

  2008cites this paper