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High-throughput discovery of novel developmental phenotypes.
Dickinson, Mary E; Flenniken, Ann M; Ji, Xiao; Teboul, Lydia; Wong, Michael D; White, Jacqueline K; Meehan, Terrence F; Weninger, Wolfgang J; Westerberg, Henrik; Adissu, Hibret; Baker, Candice N; Bower, Lynette; Brown, James M; Caddle, L Brianna; Chiani, Francesco; Clary, Dave; Cleak, James; Daly, Mark J; Denegre, James M; Doe, Brendan; Dolan, Mary E; Edie, Sarah M; Fuchs, Helmut; Gailus-Durner, Valerie; Galli, Antonella; Gambadoro, Alessia; Gallegos, Juan; Guo, Shiying; Horner, Neil R; Hsu, Chih-Wei; Johnson, Sara J; Kalaga, Sowmya; Keith, Lance C; Lanoue, Louise; Lawson, Thomas N; Lek, Monkol; Mark, Manuel; Marschall, Susan; Mason, Jeremy; McElwee, Melissa L; Newbigging, Susan; Nutter, Lauryl M J; Peterson, Kevin A; Ramirez-Solis, Ramiro; Rowland, Douglas J; Ryder, Edward; Samocha, Kaitlin E; Seavitt, John R; Selloum, Mohammed; Szoke-Kovacs, Zsombor.
Afiliación
  • Dickinson ME; Department of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
  • Flenniken AM; The Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
  • Ji X; Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada.
  • Teboul L; Genomics and Computational Biology Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Wong MD; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • White JK; The Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
  • Meehan TF; Mouse Imaging Centre, The Hospital for Sick Children, Toronto, Ontario M5T 3H7, Canada.
  • Weninger WJ; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Westerberg H; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Adissu H; Centre for Anatomy and Cell Biology, Medical University of Vienna, Vienna A-1090, Austria.
  • Baker CN; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • Bower L; The Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
  • Brown JM; The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Caddle LB; The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
  • Chiani F; Mouse Biology Program, University of California, Davis, California 95618, USA.
  • Clary D; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • Cleak J; The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
  • Daly MJ; Monterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Monterotondo Scalo I-00015, Italy.
  • Denegre JM; Mouse Biology Program, University of California, Davis, California 95618, USA.
  • Doe B; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • Dolan ME; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Edie SM; Program in Medical and Population Genetics, Broad Institute MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Fuchs H; The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
  • Gailus-Durner V; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Galli A; The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
  • Gambadoro A; The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
  • Gallegos J; Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
  • Guo S; Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
  • Horner NR; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Hsu CW; Monterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Monterotondo Scalo I-00015, Italy.
  • Johnson SJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Kalaga S; SKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing 210061, China.
  • Keith LC; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • Lanoue L; Department of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
  • Lawson TN; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • Lek M; Department of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
  • Mark M; Department of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
  • Marschall S; Mouse Biology Program, University of California, Davis, California 95618, USA.
  • Mason J; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
  • McElwee ML; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Newbigging S; Program in Medical and Population Genetics, Broad Institute MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Nutter LM; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS), et Institut de Génétique Biologie Moléculaire et Cellulaire (IGBMC) CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden 67404, France.
  • Peterson KA; Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
  • Ramirez-Solis R; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Rowland DJ; Department of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
  • Ryder E; The Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
  • Samocha KE; The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Seavitt JR; The Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
  • Selloum M; The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Szoke-Kovacs Z; The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Nature ; 537(7621): 508-514, 2016 09 22.
Article en En | MEDLINE | ID: mdl-27626380
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Genes Esenciales / Embrión de Mamíferos / Genes Letales / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Nature Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Genes Esenciales / Embrión de Mamíferos / Genes Letales / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Nature Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido