Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

scientific article published on 26 June 2017

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1086177904
P356DOI10.1038/NG.3901
P932PMC publication ID5546242
P698PubMed publication ID28650483

P50authorChristopher J. MungallQ20746118
Allan BradleyQ4730491
Paul FlicekQ28359506
Melissa HaendelQ28368079
Martin Hrabě de AngelisQ28606776
W. WurstQ67390467
David J AdamsQ87690616
Monica J JusticeQ88679010
Arthur L BeaudetQ89587667
Gemma CodnerQ90291161
Je Kyung SeongQ90612417
Robert E. BraunQ92436993
John R SeavittQ104607149
Ann M FlennikenQ114429503
Henrik WesterbergQ114429529
William C SkarnesQ114429575
Yuichi ObataQ114429589
International Mouse Phenotyping ConsortiumQ114429593
Susan NewbiggingQ114429595
Valérie Gailus-DurnerQ28606784
Ann-Marie MallonQ29840828
Natasha A KarpQ30511243
Colin McKerlieQ37370526
Guillaume PavlovicQ37632298
Yann HéraultQ37632594
Damian SmedleyQ44820039
Helen ParkinsonQ47502891
Terrence F MeehanQ54303383
Neil HornerQ56452413
Jules JacobsenQ56604100
Kent LloydQ56957396
Nicole L WashingtonQ57082032
Natalie RingQ57450358
Mike RelacQ57999261
Peter MatthewsQ57999265
Jeremy C. MasonQ59661468
Lauryl M NutterQ63616236
Karen L SvensonQ64363743
S. WellsQ67390418
J.K. WhiteQ67390425
T. SorgQ67390426
L.R. BowerQ67390428
P2093author name stringNathalie Conte
Xiang Gao
David B West
Glauco P Tocchini-Valentini
Hugh Morgan
Mark Moore
Steve D M Brown
Stephen A Murray
Mary E Dickinson
James Brown
Ilinca Tudose
Chao-Kung Chen
Michelle E Stewart
Juan Gallegos
Soo Young Cho
Corey L Reynolds
Luis Santos
Simon Greenaway
Jonathan Warren
Duncan Sneddon
Iva Morse
Tanja Fiegel
P2860cites workRobust and sensitive analysis of mouse knockout phenotypesQ21559650
A conditional knockout resource for the genome-wide study of mouse gene functionQ21735918
Drug development: Raise standards for preclinical cancer researchQ22348097
Database resources of the National Center for Biotechnology InformationQ22680374
Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motilityQ24310433
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genesQ24597048
The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse ConsortiumQ24609225
Ontogeny of erythroid gene expressionQ24624628
The mammalian gene function resource: the International Knockout Mouse ConsortiumQ24631451
The Human Phenotype Ontology in 2017Q27927007
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateQ28296164
The Economics of Reproducibility in Preclinical ResearchQ28548038
Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screenQ28658100
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitinationQ28685920
Improving bioscience research reporting: the ARRIVE guidelines for reporting animal researchQ29547313
Gene Ontology Consortium: going forwardQ29616846
Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localizationQ30274635
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinicsQ30389888
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping dataQ30441320
Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screeningQ30486034
PhenStat: A Tool Kit for Standardized Analysis of High Throughput Phenotypic DataQ30978780
Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysisQ30979661
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Q31022262
Next-generation diagnostics and disease-gene discovery with the ExomiserQ33787807
Use of model organism and disease databases to support matchmaking for human disease gene discoveryQ33806132
The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotypingQ34297070
Functionally enigmatic genes: a case study of the brain ignorome.Q34404032
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disordersQ34449729
Expression Atlas update--an integrated database of gene and protein expression in humans, animals and plants.Q34498575
Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screensQ35228284
A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse linesQ35238282
Collaborative cross mice in a genetic association study reveal new candidate genes for bone microarchitectureQ35853909
Trace Amine-Associated Receptor 1 Regulation of Methamphetamine Intake and Related Traits.Q36184899
PhenoDigm: analyzing curated annotations to associate animal models with human diseasesQ36830807
A Genome-Wide Association Study for Regulators of Micronucleus Formation in MiceQ37162971
denovo-db: a compendium of human de novo variants.Q37556964
High-throughput discovery of novel developmental phenotypesQ37629635
Spectrum of the mutations in Bernard-Soulier syndromeQ38220681
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end usersQ38474579
QuickGO: a web-based tool for Gene Ontology searchingQ38509056
Genetics of human Bardet-Biedl syndrome, an updatesQ38695238
Beyond knockouts: the International Knockout Mouse Consortium delivers modular and evolving tools for investigating mammalian genes.Q38967147
Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino AmericansQ39920027
Identification and validation of N-acetyltransferase 2 as an insulin sensitivity geneQ43105043
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.Q45305091
Measuring behavior of animal models: faults and remediesQ47935068
P433issue8
P407language of work or nameEnglishQ1860
P1104number of pages8
P304page(s)1231-1238
P577publication date2017-06-26
P1433published inNature GeneticsQ976454
P1476titleDisease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
P478volume49

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cites work (P2860)
Q92246245A Comprehensive Plasma Metabolomics Dataset for a Cohort of Mouse Knockouts within the International Mouse Phenotyping Consortium
Q93101787A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome
Q56932055A rare missense variant in associates with lower cholesterol levels
Q47136073An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers
Q57119190Animal models to study bile acid metabolism
Q95650120AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
Q89867299Chromatin interaction analyses elucidate the roles of PRC2-bound silencers in mouse development
Q57281359Classification, Ontology, and Precision Medicine
Q64921800Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus).
Q61795789Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification
Q99248364Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss
Q47863395Do Gametes Woo? Evidence for Their Nonrandom Union at Fertilization.
Q91993683Drug safety Africa: An overview of safety pharmacology & toxicology in South Africa
Q64941258Dynamic genome-scale cell-specific metabolic models reveal novel inter-cellular and intra-cellular metabolic communications during ovarian follicle development.
Q60950343Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Q90215906Experiments done in Black-6 mice: what does it mean?
Q92712017Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function
Q60303639Far away from the lamppost
Q92609296Forward genetic approach for behavioral neuroscience using animal models
Q57067133Freezing sperm in short straws reduces storage space and allows transport in dry ice
Q64040190From gene to treatment: supporting rare disease translational research through model systems
Q90590745Functions and therapeutic potential of protein phosphatase 1: Insights from mouse genetics
Q61800727Generating mouse models for biomedical research: technological advances
Q48323438Genetics of metabolic syndrome: potential clues from wild-derived inbred mouse strains
Q57492996Glucose tolerance and insulin sensitivity define adipocyte transcriptional programs in human obesity
Q55354988High-resolution μCT of a mouse embryo using a compact laser-driven X-ray betatron source.
Q52601624High-throughput mouse phenomics for characterizing mammalian gene function.
Q58805117Histone Methyltransferase mRNA Levels Increase in Response to Curative Hormone Treatment for Cryptorchidism-Dependent Male Infertility
Q92216602Housing mice in the individually ventilated or open cages-Does it matter for behavioral phenotype?
Q89474376Human and mouse essentiality screens as a resource for disease gene discovery
Q47643645Identification of genetic elements in metabolism by high-throughput mouse phenotyping
Q62774768Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Q92966916Incremental data integration for tracking genotype-disease associations
Q90516082Integrating Mouse and Human Genetic Data to Move beyond GWAS and Identify Causal Genes in Cholesterol Metabolism
Q64077215Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis
Q41440563Meis1: effects on motor phenotypes and the sensorimotor system in mice
Q50133117Mouse phenotyping sheds light on rare disease
Q99572134Multi-omics study for interpretation of genome-wide association study
Q91555874New methods for extracting function from the mammalian genome
Q92283778New models for human disease from the International Mouse Phenotyping Consortium
Q92619746Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome
Q64100857Novel splicing variant c. 208+2T>C in segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing
Q58757847Ontology-based validation and identification of regulatory phenotypes
Q91395278Optimizing PCR for Mouse Genotyping: Recommendations for Reliable, Rapid, Cost Effective, Robust and Adaptable to High-Throughput Genotyping Protocol for Any Type of Mutation
Q64974654Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy.
Q41504409Phenotyping first-generation genome editing mutants: a new standard?
Q64994782Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns.
Q58099177Quantitative evaluation of incomplete preweaning lethality in mice by using the CRISPR/Cas9 system
Q112782005RETRACTION
Q61810255RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy
Q90296962Recent advances in understanding the molecular genetic basis of mitochondrial disease
Q52366178Screening Gene Knockout Mice for Variation in Bone Mass: Analysis by μCT and Histomorphometry.
Q58757895Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes
Q90577095Soft windowing application to improve analysis of high-throughput phenotyping data
Q89488064The Deep Genome Project
Q47172675The European Bioinformatics Institute in 2017: data coordination and integration
Q57090269The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation
Q92834212The dark genome and pleiotropy: challenges for precision medicine
Q91763046The single-cell transcriptional landscape of mammalian organogenesis
Q91212051The virtuous cycle of human genetics and mouse models in drug discovery
Q92173500Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD
Q61448087Translational Control in Stem Cells
Q47565472Usage of cell nomenclature in biomedical literature
Q91955468Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans
Q49939367m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration

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