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PMID: 23870131 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

Cell ·Vol. 154 ·No. 2 ·2013-07-18 ·Pages 452-64

White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP

Abstract

Mutations in whole organisms are powerful ways of interrogating gene function in a realistic context. We describe a program, the Sanger Institute Mouse Genetics Project, that provides a step toward the aim of knocking out all genes and screening each line for a broad range of traits. We found that hitherto unpublished genes were as likely to reveal phenotypes as known genes, suggesting that novel genes represent a rich resource for investigating the molecular basis of disease. We found many unexpected phenotypes detected only because we screened for them, emphasizing the value of screening all mutants for a wide range of traits. Haploinsufficiency and pleiotropy were both surprisingly common. Forty-two percent of genes were essential for viability, and these were less likely to have a paralog and more likely to contribute to a protein complex than other genes. Phenotypic data and more than 900 mutants are openly available for further analysis. PAPERCLIP:

MeSH Terms
Animals Disease/genetics Disease Models, Animal Female Genes, Essential Genetic Techniques Genome-Wide Association Study Male Mice Mice, Knockout Phenotype
Authors & Affiliations
31 authors, click to expand affiliations / ORCID
White Jacqueline K
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Gerdin Anna-Karin
Karp Natasha A
Ryder Ed
Buljan Marija
Bussell James N
Salisbury Jennifer
Clare Simon
Ingham Neil J
Podrini Christine
Houghton Richard
Estabel Jeanne
Bottomley Joanna R
Melvin David G
Sunter David
Adams Niels C
Sanger Institute Mouse Genetics Project
Tannahill David
Logan Darren W
Macarthur Daniel G
Flint Jonathan
Mahajan Vinit B
Tsang Stephen H
Smyth Ian
Watt Fiona M
Skarnes William C
Dougan Gordon
Adams David J
Ramirez-Solis Ramiro
Bradley Allan
Steel Karen P
Investigators
100 investigators, click to expand
Baker Lauren
Barnes Caroline
Beveridge Ryan
Cambridge Emma
Carragher Damian
Chana Prabhjoat
Clarke Kay
Hooks Yvette
Igosheva Natalia
Ismail Ozama
Jackson Hannah
Kane Leanne
Lacey Rosalind
Lafont David Tino
Lucas Mark
Maguire Simon
McGill Katherine
McIntyre Rebecca E
Messager Sophie
Mottram Lynda
Mulderrig Lee
Pearson Selina
Protheroe Hayley J
Roberson Laura-Anne
Salsbury Grace
Sanderson Mark
Sanger Daniel
Shannon Carl
Thompson Paul C
Tuck Elizabeth
Vancollie Valerie E
Brackenbury Lisa
Bushell Wendy
Cook Ross
Dalvi Priya
Gleeson Diane
Habib Bishoy
Hardy Matt
Liakath-Ali Kifayathullah
Miklejewska Evelina
Price Stacey
Sethi Debarati
Trenchard Elizabeth
von Schiller Dominique
Vyas Sapna
West Anthony P
Woodward John
Wynn Elizabeth
Evans Arthur
Gannon David
Griffiths Mark
Holroyd Simon
Iyer Vivek
Kipp Christian
Lewis Morag
Li Wei
Oakley Darren
Richardson David
Smedley Damian
Agu Chukwuma
Bryant Jackie
Delaney Liz
Gueorguieva Nadia I
Tharagonnet Helen
Townsend Anne J
Biggs Daniel
Brown Ellen
Collinson Adam
Dumeau Charles-Etienne
Grau Evelyn
Harrison Sarah
Harrison James
Ingle Catherine E
Kundi Helen
Madich Alla
Mayhew Danielle
Metcalf Tom
Newman Stuart
Pass Johanna
Pearson Laila
Reynolds Helen
Sinclair Caroline
Wardle-Jones Hannah
Woods Michael
Alexander Liam
Brown Terry
Flack Francesca
Frost Carole
Griggs Nicola
Hrnciarova Silvia
Kirton Andrea
McDermott Jordan
Rogerson Claire
White Gemma
Zielezinski Pawel
Ditommaso Tia
Edwards Andrew
Heath Emma
Mahajan Mary Ann
Yalcin Binnaz
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Article Info
Journal
Cell
Abbr.
Cell
ISSN
1097-4172
Published
2013-07-18
Pages
452-64
Language
English
Region
United States
NLM ID
0413066
PMCID
PMC3717207
Subset
IM
Grants
NEI NIH HHS · R01 EY018213 · United States
Medical Research Council · G0300212 · United Kingdom
NEI NIH HHS · K08 EY020530 · United States
Medical Research Council · RG45277 PCAG/116 · United Kingdom
NEI NIH HHS · 5K08EY020530-02 · United States
Cancer Research UK · 12401 · United Kingdom
NEI NIH HHS · EY08213 · United States
Medical Research Council · MC_QA137918 · United Kingdom
Wellcome Trust · 098051 · United Kingdom
Wellcome Trust · 090532 · United Kingdom
Cancer Research UK · 13031 · United Kingdom
Wellcome Trust · 096540 · United Kingdom
Wellcome Trust · 100669 · United Kingdom
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