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Corrigendum: High-throughput discovery of novel developmental phenotypes

Authors :
Mary E, Dickinson
Ann M, Flenniken
Xiao, Ji
Lydia, Teboul
Michael D, Wong
Jacqueline K, White
Terrence F, Meehan
Wolfgang J, Weninger
Henrik, Westerberg
Hibret, Adissu
Candice N, Baker
Lynette, Bower
James M, Brown
L Brianna, Caddle
Francesco, Chiani
Dave, Clary
James, Cleak
Mark J, Daly
James M, Denegre
Brendan, Doe
Mary E, Dolan
Sarah M, Edie Helmut Fuchs
Valerie, Gailus-Durner
Antonella, Galli
Alessia, Gambadoro
Juan, Gallegos
Shiying, Guo
Neil R, Horner
Chih-Wei, Hsu
Sara J, Johnson
Sowmya, Kalaga
Lance C, Keith
Louise, Lanoue
Thomas N, Lawson
Monkol, Lek
Manuel, Mark
Susan, Marschall
Jeremy, Mason
Melissa L, McElwee
Susan Newbigging Lauryl M J, Nutter
Kevin A, Peterson
Ramiro, Ramirez-Solis
Douglas J, Rowland
Edward, Ryder
Kaitlin E, Samocha
John R, Seavitt
Mohammed, Selloum
Zsombor, Szoke-Kovacs
Masaru, Tamura
Amanda G, Trainor
Ilinca, Tudose
Shigeharu, Wakana
Jonathan, Warren
Olivia, Wendling
David B, West
Leeyean, Wong
Atsushi, Yoshiki
Wolfgang, Wurst
Daniel G, MacArthur
Glauco P, Tocchini-Valentini
Xiang, Gao
Paul, Flicek
Allan, Bradley
William C, Skarnes
Monica J, Justice
Helen E, Parkinson
Mark, Moore
Sara, Wells
Robert E, Braun
Karen L, Svenson
Martin Hrabe, de Angelis
Yann, Herault
Tim, Mohun
Ann-Marie, Mallon
R Mark, Henkelman
Steve D M, Brown
David J, Adams
K C Kent, Lloyd
Colin, McKerlie
Arthur L, Beaudet
Maja Bućan Stephen A, Murray
Source :
Nature
Publication Year :
2017

Abstract

Approximately one third of all mammalian genes are essential for life. Phenotypes resulting from mouse knockouts of these genes have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5000 knockout mouse lines, we have identified 410 lethal genes during the production of the first 1751 unique gene knockouts. Using a standardised phenotyping platform that incorporates high-resolution 3D imaging, we identified novel 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 identified in our screen, thus providing a novel dataset that facilitates prioritization and validation of mutations identified in clinical sequencing efforts.

Details

ISSN :
14764687
Volume :
551
Issue :
7680
Database :
OpenAIRE
Journal :
Nature
Accession number :
edsair.pmid..........74b5a3945655035b12ce6c274bdc013b