PgmNr M253: 3D image analysis of embryonic lethal mutations: An IMPC/KOMP2 resource.
Authors:
M. E. Dickinson
1 ; A. Flenniken
2,3 ; X. Ji
4 ; L. Teboul
5 ; M. D. Wong
2,3 ; J. K. White
6 ; T. Meehan
7 ; W. J. Weninger
8 ; H. Westerberg
5 ; C.-W. Hsu
1 ; M. J. Justice
1,3 ; Y. Herault
9 ; T. Mohun
10 ; A.-M. Mallon
5 ; R. M. Henkelman
2,3 ; S. D. Brown
5 ; K. C. Lloyd
11 ; A. L. Beaudet
1 ; M. Bucan
4 ; S. A. Murray
12 ; The International Mouse Phenotyping Consortium
Institutes
1) Baylor College of Medicine, Houston, TX; 2) Toronto Centre for Phenogenomics, Toronto, Ontario, M5T 3H7, Canada; 3) The Hospital for Sick Children, Toronto Ontario, M5G 1X8, Canada; 4) Genomics and Computational Biology Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104; 5) Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, UK; 6) The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK; 7) European Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; 8) Centre for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria; 9) Institut Clinique de la Souris (ICS), PHENOMIN, Illkirch, Cedex, France; 10) The Francis Crick Institute Mill Hill Laboratory, The Ridgeway, Mill Hill, London A, UK; 11) Mouse Biology Program, University of California, Davis; 12) The Jackson Laboratory, Bar Harbor, Maine, USA. Abstract: Mutant mice provide a rich resource to identify and understand gene function. The overall goal of the International Mouse Phenotype Consortium (IMPC) and the Knockout Mouse Project (KOMP2) is to utilize comprehensive, broad-based, high-throughput phenotyping to characterize phenotypes resulting from null alleles in all ~21,000 functional genes within the mouse genome. To date, over 5000 mutant mice have been generated and consistent with other large-scale mutant screens, 35% of these genes are essential for embryonic and neonatal development. To describe the embryonic and neonatal phenotypes in recessive lethal mutations, a high-throughput pipeline has been established. The pipeline is being used to define the window (embryonic/postnatal) stage of lethality, to assess gross morphology and to generate 3D imaging data. The imaging data is used to identify structural defects and then it is curated and made available to the scientific community. Here, we will describe the imaging technologies, resources to visualize the data, unique phenotypes revealed with 3D imaging and future directions to enhance this resource.