A comprehensive functional annotation of all genes is a key goal for the future investigation of mammalian systems and biomedical sciences. We have established a consortium for the large-scale phenotyping of mouse mutants, which is fundamental to the investigation of gene function. The BaSH consortium, Baylor College of Medicine (BCM), Houston, Texas, the Wellcome Trust Sanger Institute Mouse Genetics Programme, Hinxton, United Kingdom, and the Medical Research Council Harwell, (Mammalian Genetics Unit and Mary Lyon Centre), United Kingdom, will undertake broad-based phenotype analysis of 300 IKMC mouse lines per year with the aim of identifying perturbations on developmental, physiological and biochemical pathways that will guide experimenters to develop hypothesis-driven research into disease systems.
Our aims are to 1) complete the broad-based disease phenotyping of over 1500 lines of mutant mice in the C57BL/6N genetic background, 2) validate an optimized and enhanced broad-based phenotyping pipeline that will detect a variety of disease phenotypes and increase throughput, and 3) submit phenotypic data to the designated data coordination center, ensuring an interface with the wider biomedical scientific community that will inform human genetic studies. Our approach is to build on our unique expertise in mouse phenotyping and the successful operation of major pilot projects for mouse phenotyping of EUCOMM and KOMP mutants to deliver a phenotyping pipeline with strategic breadth that serves the needs of the medical community. Our pipeline design aims to deliver mouse models in key therapeutically relevant areas - for example in Cardiovascular, Metabolic, Neurological, Respiratory and Immunological Systems. Assessment of mouse mutants using our phenotyping pipeline will discover novel preclinical models of therapeutic importance, encompassing many of the diseases that account for the highest rates of disease morbidity throughout the developed world.

Public Health Relevance

Most of the genes in a person are normal, but we also carry several hundred broken ones. While some broken genes can cause severe disease such as cystic fibrosis or cancer, others have little of no consequence, or function only under stress. Currently, we have some understanding of the function of just one third of human genes. If we are to fully understand human health and disease we must expand knowledge of gene function to all of our genes using model organisms such as the mouse.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZHG1-HGR-M (M2))
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Fletcher, Colin F
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Baylor College of Medicine
Schools of Medicine
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Lopez 3rd, Andrew L; Larina, Irina V (2018) Dynamic Imaging of Mouse Embryos and Cardiodynamics in Static Culture. Methods Mol Biol 1752:41-52
Yao, Chunxia; Veleva, Tina; Scott Jr, Larry et al. (2018) Enhanced Cardiomyocyte NLRP3 Inflammasome Signaling Promotes Atrial Fibrillation. Circulation 138:2227-2242
Albrecht, Nicholas E; Alevy, Jonathan; Jiang, Danye et al. (2018) Rapid and Integrative Discovery of Retina Regulatory Molecules. Cell Rep 24:2506-2519
Xiao, Yang; Hill, Matthew C; Zhang, Min et al. (2018) Hippo Signaling Plays an Essential Role in Cell State Transitions during Cardiac Fibroblast Development. Dev Cell 45:153-169.e6
Jordan, Valerie K; Beck, Tyler F; Hernandez-Garcia, Andres et al. (2018) The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet 27:2064-2075
Muñoz-Fuentes, Violeta; Cacheiro, Pilar; Meehan, Terrence F et al. (2018) The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation. Conserv Genet 19:995-1005
Rozman, Jan; Rathkolb, Birgit; Oestereicher, Manuela A et al. (2018) Identification of genetic elements in metabolism by high-throughput mouse phenotyping. Nat Commun 9:288
Meehan, Terrence F; Conte, Nathalie; West, David B et al. (2017) Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nat Genet 49:1231-1238
Szwarc, Maria M; Kommagani, Ramakrishna; Peavey, Mary C et al. (2017) A bioluminescence reporter mouse that monitors expression of constitutively active ?-catenin. PLoS One 12:e0173014
Singh, Manmohan; Li, Jiasong; Vantipalli, Srilatha et al. (2017) Optical coherence elastography for evaluating customized riboflavin/UV-A corneal collagen crosslinking. J Biomed Opt 22:91504

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