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Volumn 49, Issue 8, 2017, Pages 1231-1238

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

(63)  Meehan, Terrence F a   Conte, Nathalie a   West, David B b   Jacobsen, Julius O c   Mason, Jeremy a   Warren, Jonathan a   Chen, Chao Kung a   Tudose, Ilinca a   Relac, Mike a   Matthews, Peter a   Karp, Natasha d   Santos, Luis e   Fiegel, Tanja e   Ring, Natalie e   Westerberg, Henrik e   Greenaway, Simon e   Sneddon, Duncan e   Morgan, Hugh e   Codner, Gemma F e   Stewart, Michelle E e   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARRHYTHMOGENESIS; ARTICLE; BARDET BIEDL SYNDROME; BERNARD SOULIER DISEASE; BORDETELLA HOLMESII; DISEASE MODEL; GENE FUNCTION; GENE IDENTIFICATION; GENETIC VARIABILITY; HEART RIGHT VENTRICLE DYSPLASIA; KNOCKOUT GENE; KNOCKOUT MOUSE; LIBRARY SCIENCE; MOLECULAR BIOLOGY; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PUBLICATION; STANDARDIZATION; VALIDATION STUDY; ANIMAL; FEMALE; GENE INACTIVATION; GENETIC DISORDER; GENETIC PREDISPOSITION; HUMAN; MALE;

EID: 85026357870     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3901     Document Type: Article
Times cited : (194)

References (45)
  • 1
    • 84939240528 scopus 로고    scopus 로고
    • Allele, phenotype and disease data at Mouse Genome Informatics: Improving access and analysis
    • Bello, S.M., Smith, C.L. &Eppig, J.T. Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis. Mamm. Genome 26, 285-294 (2015).
    • (2015) Mamm. Genome , vol.26 , pp. 285-294
    • Bello, S.M.1    Smith, C.L.2    Eppig, J.T.3
  • 2
    • 84859169880 scopus 로고    scopus 로고
    • Drug development: Raise standards for preclinical cancer research
    • Begley, C.G. &Ellis, L.M. Drug development: raise standards for preclinical cancer research. Nature 483, 531-533 (2012).
    • (2012) Nature , vol.483 , pp. 531-533
    • Begley, C.G.1    Ellis, L.M.2
  • 3
    • 84870768385 scopus 로고    scopus 로고
    • Measuring behavior of animal models: Faults and remedies
    • Fonio, E., Golani, I. &Benjamini, Y. Measuring behavior of animal models: faults and remedies. Nat. Methods 9, 1167-1170 (2012).
    • (2012) Nat. Methods , vol.9 , pp. 1167-1170
    • Fonio, E.1    Golani, I.2    Benjamini, Y.3
  • 4
    • 85041813459 scopus 로고    scopus 로고
    • Improving bioscience research reporting: The ARRIVE guidelines for reporting animal research
    • Kilkenny, C., Browne, W.J., Cuthill, I.C., Emerson, M. &Altman, D.G. Improving bioscience research reporting: the ARRIVE guidelines for reporting animal research. PLoS Biol. 8, e1000412 (2010).
    • (2010) PLoS Biol. , vol.8 , pp. e1000412
    • Kilkenny, C.1    Browne, W.J.2    Cuthill, I.C.3    Emerson, M.4    Altman, D.G.5
  • 5
    • 84867337003 scopus 로고    scopus 로고
    • The International Mouse Phenotyping Consortium: Past and future perspectives on mouse phenotyping
    • Brown, S.D.M. &Moore, M.W. The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping. Mamm. Genome 23, 632-640 (2012).
    • (2012) Mamm. Genome , vol.23 , pp. 632-640
    • Brown, S.D.M.1    Moore, M.W.2
  • 6
    • 84940571939 scopus 로고    scopus 로고
    • Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
    • Hraběde Angelis, M. et al. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nat. Genet. 47, 969-978 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 969-978
    • Hraběde, A.M.1
  • 7
    • 79959210305 scopus 로고    scopus 로고
    • A conditional knockout resource for the genome-wide study of mouse gene function
    • Skarnes, W.C. et al. A conditional knockout resource for the genome-wide study of mouse gene function. Nature 474, 337-342 (2011).
    • (2011) Nature , vol.474 , pp. 337-342
    • Skarnes, W.C.1
  • 8
    • 84867332476 scopus 로고    scopus 로고
    • The mammalian gene function resource: The International Knockout Mouse Consortium
    • Bradley, A. et al. The mammalian gene function resource: the International Knockout Mouse Consortium. Mamm. Genome 23, 580-586 (2012).
    • (2012) Mamm. Genome , vol.23 , pp. 580-586
    • Bradley, A.1
  • 9
    • 84943818659 scopus 로고    scopus 로고
    • Beyond knockouts: The International Knockout Mouse Consortium delivers modular and evolving tools for investigating mammalian genes
    • Rosen, B., Schick, J. &Wurst, W. Beyond knockouts: the International Knockout Mouse Consortium delivers modular and evolving tools for investigating mammalian genes. Mamm. Genome 26, 456-466 (2015).
    • (2015) Mamm. Genome , vol.26 , pp. 456-466
    • Rosen, B.1    Schick, J.2    Wurst, W.3
  • 10
    • 84989204804 scopus 로고    scopus 로고
    • High-throughput discovery of novel developmental phenotypes
    • Dickinson, M.E. et al. High-throughput discovery of novel developmental phenotypes. Nature 537, 508-514 (2016).
    • (2016) Nature , vol.537 , pp. 508-514
    • Dickinson, M.E.1
  • 11
    • 84877821168 scopus 로고    scopus 로고
    • Bloomsbury report on mouse embryo phenotyping: Recommendations from the IMPC workshop on embryonic lethal screening
    • Adams, D. et al. Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening. Dis. Model. Mech. 6, 571-579 (2013).
    • (2013) Dis. Model. Mech. , vol.6 , pp. 571-579
    • Adams, D.1
  • 12
    • 84940062348 scopus 로고    scopus 로고
    • PhenStat: A tool kit for standardized analysis of high throughput phenotypic data
    • Kurbatova, N., Mason, J.C., Morgan, H., Meehan, T.F. &Karp, N.A. PhenStat: a tool kit for standardized analysis of high throughput phenotypic data. PLoS One 10, e0131274 (2015).
    • (2015) PLoS One , vol.10 , pp. e0131274
    • Kurbatova, N.1    Mason, J.C.2    Morgan, H.3    Meehan, T.F.4    Karp, N.A.5
  • 13
    • 84927740488 scopus 로고    scopus 로고
    • A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines
    • West, D.B. et al. A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines. Genome Res. 25, 598-607 (2015).
    • (2015) Genome Res. , vol.25 , pp. 598-607
    • West, D.B.1
  • 14
    • 84900406282 scopus 로고    scopus 로고
    • Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen
    • Adissu, H.A. et al. Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen. Dis. Model. Mech. 7, 515-524 (2014).
    • (2014) Dis. Model. Mech. , vol.7 , pp. 515-524
    • Adissu, H.A.1
  • 15
    • 84891757565 scopus 로고    scopus 로고
    • The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data
    • Koscielny, G. et al. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 42, D802-D809 (2014).
    • (2014) Nucleic Acids Res. , vol.42 , pp. D802-D809
    • Koscielny, G.1
  • 16
    • 84934323188 scopus 로고    scopus 로고
    • The economics of reproducibility in preclinical research
    • Freedman, L.P., Cockburn, I.M. &Simcoe, T.S. The economics of reproducibility in preclinical research. PLoS Biol. 13, e1002165 (2015).
    • (2015) PLoS Biol. , vol.13 , pp. e1002165
    • Freedman, L.P.1    Cockburn, I.M.2    Simcoe, T.S.3
  • 17
    • 84946081339 scopus 로고    scopus 로고
    • OMIM.org: Online Mendelian Inheritance in Man (OMIM® ), an online catalog of human genes and genetic disorders
    • Amberger, J.S., Bocchini, C.A., Schiettecatte, F., Scott, A.F. &Hamosh, A. OMIM.org: Online Mendelian Inheritance in Man (OMIM® ), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 43, D789-D798 (2015).
    • (2015) Nucleic Acids Res. , vol.43 , pp. D789-D798
    • Amberger, J.S.1    Bocchini, C.A.2    Schiettecatte, F.3    Scott, A.F.4    Hamosh, A.5
  • 18
    • 84864358886 scopus 로고    scopus 로고
    • Representation of rare diseases in health information systems: The Orphanet approach to serve a wide range of end users
    • Rath, A. et al. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum. Mutat. 33, 803-808 (2012).
    • (2012) Hum. Mutat. , vol.33 , pp. 803-808
    • Rath, A.1
  • 19
    • 85015982066 scopus 로고    scopus 로고
    • The Human Phenotype Ontology in 2017
    • Köhler, S. et al. The Human Phenotype Ontology in 2017. Nucleic Acids Res. 45, D1, D865-D876 (2017).
    • (2017) Nucleic Acids Res. , vol.45 , Issue.D1 , pp. D865-D876
    • Köhler, S.1
  • 20
    • 84941880519 scopus 로고    scopus 로고
    • Use of model organism and disease databases to support matchmaking for human disease gene discovery
    • Mungall, C.J. et al. Use of model organism and disease databases to support matchmaking for human disease gene discovery. Hum. Mutat. 36, 979-984 (2015).
    • (2015) Hum. Mutat. , vol.36 , pp. 979-984
    • Mungall, C.J.1
  • 21
    • 84938782540 scopus 로고    scopus 로고
    • Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens
    • Smith, C.L. &Eppig, J.T. Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens. J. Biomed. Semantics 6, 11 (2015).
    • (2015) J. Biomed. Semantics , vol.6 , pp. 11
    • Smith, C.L.1    Eppig, J.T.2
  • 22
    • 84885393730 scopus 로고    scopus 로고
    • PhenoDigm: Analyzing curated annotations to associate animal models with human diseases
    • Smedley, D. et al. PhenoDigm: analyzing curated annotations to associate animal models with human diseases. Database (Oxford) 2013, bat025 (2013).
    • (2013) Database (Oxford) , vol.2013 , pp. bat025
    • Smedley, D.1
  • 23
    • 84906056536 scopus 로고    scopus 로고
    • Spectrum of the mutations in Bernard-Soulier syndrome
    • Savoia, A. et al. Spectrum of the mutations in Bernard-Soulier syndrome. Hum. Mutat. 35, 1033-1045 (2014).
    • (2014) Hum. Mutat. , vol.35 , pp. 1033-1045
    • Savoia, A.1
  • 24
    • 85027927057 scopus 로고    scopus 로고
    • Genetics of human Bardet-Biedl syndrome, an updates
    • Khan, S.A. et al. Genetics of human Bardet-Biedl syndrome, an updates. Clin. Genet. 90, 3-15 (2016).
    • (2016) Clin. Genet. , vol.90 , pp. 3-15
    • Khan, S.A.1
  • 25
    • 84877935385 scopus 로고    scopus 로고
    • Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination
    • Margolin, D.H. et al. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N. Engl. J. Med. 368, 1992-2003 (2013).
    • (2013) N. Engl. J. Med. , vol.368 , pp. 1992-2003
    • Margolin, D.H.1
  • 26
    • 84929118585 scopus 로고    scopus 로고
    • RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
    • Santens, P. et al. RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. Neurology 84, 1760-1766 (2015).
    • (2015) Neurology , vol.84 , pp. 1760-1766
    • Santens, P.1
  • 27
    • 84880562927 scopus 로고    scopus 로고
    • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
    • White, J.K. et al. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell 154, 452-464 (2013).
    • (2013) Cell , vol.154 , pp. 452-464
    • White, J.K.1
  • 28
    • 84946735654 scopus 로고    scopus 로고
    • Gene Ontology Consortium: Going forward
    • Gene Ontology Consortium
    • Gene Ontology Consortium. Gene Ontology Consortium: going forward. Nucleic Acids Res. 43, D1049-D1056 (2015).
    • (2015) Nucleic Acids Res. , vol.43 , pp. D1049-D1056
  • 29
    • 84895734902 scopus 로고    scopus 로고
    • Functionally enigmatic genes: A case study of the brain ignorome
    • Pandey, A.K., Lu, L., Wang, X., Homayouni, R. &Williams, R.W. Functionally enigmatic genes: a case study of the brain ignorome. PLoS One 9, e88889 (2014).
    • (2014) PLoS One , vol.9 , pp. e88889
    • Pandey, A.K.1    Lu, L.2    Wang, X.3    Homayouni, R.4    Williams, R.W.5
  • 30
    • 84976878197 scopus 로고    scopus 로고
    • Expression Atlas update: An integrated database of gene and protein expression in humans, animals and plants
    • Petryszak, R. et al. Expression Atlas update: an integrated database of gene and protein expression in humans, animals and plants. Nucleic Acids Res. 44, D746-D752 (2016).
    • (2016) Nucleic Acids Res. , vol.44 , pp. D746-D752
    • Petryszak, R.1
  • 31
    • 84873590369 scopus 로고    scopus 로고
    • Ontogeny of erythroid gene expression
    • Kingsley, P.D. et al. Ontogeny of erythroid gene expression. Blood 121, e5-e13 (2013).
    • (2013) Blood , vol.121 , pp. e5-e13
    • Kingsley, P.D.1
  • 32
    • 78649549671 scopus 로고    scopus 로고
    • The ribosomal basis of Diamond-Blackfan anemia: Mutation and database update
    • Boria, I. et al. The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31, 1269-1279 (2010).
    • (2010) Hum. Mutat. , vol.31 , pp. 1269-1279
    • Boria, I.1
  • 33
    • 84906860649 scopus 로고    scopus 로고
    • Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization
    • Kizil, C. et al. Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization. Development 141, 3529-3539 (2014).
    • (2014) Development , vol.141 , pp. 3529-3539
    • Kizil, C.1
  • 34
    • 84947907035 scopus 로고    scopus 로고
    • Next-generation diagnostics and disease-gene discovery with the Exomiser
    • Smedley, D. et al. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat. Protoc. 10, 2004-2015 (2015).
    • (2015) Nat. Protoc. , vol.10 , pp. 2004-2015
    • Smedley, D.1
  • 35
    • 84975063087 scopus 로고    scopus 로고
    • Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
    • Bone, W.P. et al. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genet. Med. 18, 608-617 (2016).
    • (2016) Genet. Med. , vol.18 , pp. 608-617
    • Bone, W.P.1
  • 36
    • 84937162820 scopus 로고    scopus 로고
    • Trace amine-associated receptor 1 regulation of methamphetamine intake and related traits
    • Harkness, J.H., Shi, X., Janowsky, A. &Phillips, T.J. Trace amine-associated receptor 1 regulation of methamphetamine intake and related traits. Neuropsychopharmacology 40, 2175-2184 (2015).
    • (2015) Neuropsychopharmacology , vol.40 , pp. 2175-2184
    • Harkness, J.H.1    Shi, X.2    Janowsky, A.3    Phillips, T.J.4
  • 37
    • 84989281322 scopus 로고    scopus 로고
    • Genetic associations with obstructive sleep apnea traits in Hispanic/Latino Americans
    • Cade, B.E. et al. Genetic associations with obstructive sleep apnea traits in Hispanic/Latino Americans. Am. J. Respir. Crit. Care Med. 194, 886-897 (2016).
    • (2016) Am. J. Respir. Crit. Care Med. , vol.194 , pp. 886-897
    • Cade, B.E.1
  • 38
    • 84956618075 scopus 로고    scopus 로고
    • Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene
    • Knowles, J.W. et al. Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. J. Clin. Invest. 126, 403 (2016).
    • (2016) J. Clin. Invest. , vol.126 , pp. 403
    • Knowles, J.W.1
  • 39
    • 84894107556 scopus 로고    scopus 로고
    • Recurrent deletions of ULK4 in schizophrenia: A gene crucial for neuritogenesis and neuronal motility
    • Lang, B. et al. Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility. J. Cell Sci. 127, 630-640 (2014).
    • (2014) J. Cell Sci. , vol.127 , pp. 630-640
    • Lang, B.1
  • 40
    • 84983593713 scopus 로고    scopus 로고
    • A genome-wide association study for regulators of micronucleus formation in mice
    • McIntyre, R.E. et al. A genome-wide association study for regulators of micronucleus formation in mice. G3 (Bethesda) 6, 2343-2354 (2016).
    • (2016) G3 (Bethesda) , vol.6 , pp. 2343-2354
    • McIntyre, R.E.1
  • 41
    • 84960127874 scopus 로고    scopus 로고
    • Collaborative cross mice in a genetic association study reveal new candidate genes for bone microarchitecture
    • Levy, R., Mott, R.F., Iraqi, F.A. &Gabet, Y. Collaborative cross mice in a genetic association study reveal new candidate genes for bone microarchitecture. BMC Genomics 16, 1013 (2015).
    • (2015) BMC Genomics , vol.16 , pp. 1013
    • Levy, R.1    Mott, R.F.2    Iraqi, F.A.3    Gabet, Y.4
  • 42
    • 78651284860 scopus 로고    scopus 로고
    • The IKMC web portal: A central point of entry to data and resources from the International Knockout Mouse Consortium
    • Ringwald, M. et al. The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium. Nucleic Acids Res. 39, D849-D855 (2011).
    • (2011) Nucleic Acids Res. , vol.39 , pp. D849-D855
    • Ringwald, M.1
  • 43
    • 84871552302 scopus 로고    scopus 로고
    • Robust and sensitive analysis of mouse knockout phenotypes
    • Karp, N.A., Melvin, D., Sanger Mouse Genetics Project &Mott, R.F. Robust and sensitive analysis of mouse knockout phenotypes. PLoS One 7, e52410 (2012).
    • (2012) PLoS One , vol.7 , pp. e52410
    • Karp, N.A.1    Melvin, D.2    Mott, R.F.3
  • 44
    • 84857745267 scopus 로고    scopus 로고
    • Database resources of the National Center for Biotechnology Information
    • Sayers, E.W. et al. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 40, D13-D25 (2012).
    • (2012) Nucleic Acids Res. , vol.40 , pp. D13-D25
    • Sayers, E.W.1
  • 45
    • 70449356774 scopus 로고    scopus 로고
    • QuickGO: A web-based tool for Gene Ontology searching
    • Binns, D. et al. QuickGO: a web-based tool for Gene Ontology searching. Bioinformatics 25, 3045-3046 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 3045-3046
    • Binns, D.1


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