Journal
DISEASE MODELS & MECHANISMS
Volume 6, Issue 3, Pages 571-579Publisher
COMPANY BIOLOGISTS LTD
DOI: 10.1242/dmm.011833
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Funding
- British Heart Foundation [RG/10/17/28553] Funding Source: Medline
- Cancer Research UK [13031] Funding Source: Medline
- Medical Research Council [G0801124, G0802163, MC_U117562103] Funding Source: Medline
- NHGRI NIH HHS [U54 HG006364, U54 HG006348] Funding Source: Medline
- NICHD NIH HHS [P30 HD024064] Funding Source: Medline
- NIH HHS [U42 OD011175, U42 OD011174, U42 OD011185] Funding Source: Medline
- Wellcome Trust [090532, 100160] Funding Source: Medline
- British Heart Foundation [RG/10/17/28553] Funding Source: researchfish
- Cancer Research UK [13031] Funding Source: researchfish
- Great Ormond Street Hospital Childrens Charity [W0908] Funding Source: researchfish
- Medical Research Council [MC_PC_U127527203, G0802163, MC_U117562103, G0801124] Funding Source: researchfish
- MRC [G0802163, MC_U117562103, MC_PC_U127527203, G0801124] Funding Source: UKRI
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Identifying genes that are important for embryo development is a crucial first step towards understanding their many functions in driving the ordered growth, differentiation and organogenesis of embryos. It can also shed light on the origins of developmental disease and congenital abnormalities. Current international efforts to examine gene function in the mouse provide a unique opportunity to pinpoint genes that are involved in embryogenesis, owing to the emergence of embryonic lethal knockout mutants. Through internationally coordinated efforts, the International Knockout Mouse Consortium (IKMC) has generated a public resource of mouse knockout strains and, in April 2012, the International Mouse Phenotyping Consortium (IMPC), supported by the EU InfraCoMP programme, convened a workshop to discuss developing a phenotyping pipeline for the investigation of embryonic lethal knockout lines. This workshop brought together over 100 scientists, from 13 countries, who are working in the academic and commercial research sectors, including experts and opinion leaders in the fields of embryology, animal imaging, data capture, quality control and annotation, high-throughput mouse production, phenotyping, and reporter gene analysis. This article summarises the outcome of the workshop, including (1) the vital scientific importance of phenotyping embryonic lethal mouse strains for basic and translational research; (2) a common framework to harmonise international efforts within this context; (3) the types of phenotyping that are likely to be most appropriate for systematic use, with a focus on 3D embryo imaging; (4) the importance of centralising data in a standardised form to facilitate data mining; and (5) the development of online tools to allow open access to and dissemination of the phenotyping data.
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