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一个用于表型和转化研究发现的小鼠信息学平台。

A mouse informatics platform for phenotypic and translational discovery.

作者信息

Ring Natalie, Meehan Terrence F, Blake Andrew, Brown James, Chen Chao-Kung, Conte Nathalie, Di Fenza Armida, Fiegel Tanja, Horner Neil, Jacobsen Julius O B, Karp Natasha, Lawson Thomas, Mason Jeremy C, Matthews Peter, Morgan Hugh, Relac Mike, Santos Luis, Smedley Damian, Sneddon Duncan, Pengelly Alice, Tudose Ilinca, Warren Jonathan W G, Westerberg Henrik, Yaikhom Gagarine, Parkinson Helen, Mallon Ann-Marie

机构信息

MRC Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Harwell, OX11 0RD, UK.

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.

出版信息

Mamm Genome. 2015 Oct;26(9-10):413-21. doi: 10.1007/s00335-015-9599-2. Epub 2015 Aug 28.

DOI:10.1007/s00335-015-9599-2
PMID:26314589
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4602054/
Abstract

The International Mouse Phenotyping Consortium (IMPC) is providing the world's first functional catalogue of a mammalian genome by characterising a knockout mouse strain for every gene. A robust and highly structured informatics platform has been developed to systematically collate, analyse and disseminate the data produced by the IMPC. As the first phase of the project, in which 5000 new knockout strains are being broadly phenotyped, nears completion, the informatics platform is extending and adapting to support the increasing volume and complexity of the data produced as well as addressing a large volume of users and emerging user groups. An intuitive interface helps researchers explore IMPC data by giving overviews and the ability to find and visualise data that support a phenotype assertion. Dedicated disease pages allow researchers to find new mouse models of human diseases, and novel viewers provide high-resolution images of embryonic and adult dysmorphologies. With each monthly release, the informatics platform will continue to evolve to support the increased data volume and to maintain its position as the primary route of access to IMPC data and as an invaluable resource for clinical and non-clinical researchers.

摘要

国际小鼠表型分析联盟(IMPC)正在通过对每个基因的基因敲除小鼠品系进行特征描述,提供世界上首个哺乳动物基因组功能目录。一个强大且高度结构化的信息学平台已被开发出来,用于系统地整理、分析和传播IMPC产生的数据。随着该项目第一阶段(对5000个新的基因敲除品系进行广泛的表型分析)接近尾声,信息学平台正在扩展和调整,以支持所产生数据的数量和复杂性不断增加,并满足大量用户和新兴用户群体的需求。一个直观的界面通过提供概述以及查找和可视化支持表型断言的数据的能力,帮助研究人员探索IMPC数据。专门的疾病页面使研究人员能够找到人类疾病的新小鼠模型,新型查看器提供胚胎和成年畸形的高分辨率图像。随着每月的发布,信息学平台将继续发展,以支持不断增加的数据量,并保持其作为访问IMPC数据的主要途径以及临床和非临床研究人员的宝贵资源的地位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/4d3f535bf1e1/335_2015_9599_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/5922bc0a89a7/335_2015_9599_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/8beaabe04163/335_2015_9599_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/8c19ad2a39c2/335_2015_9599_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/d7b788eeb18b/335_2015_9599_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/7dcccbfbaec6/335_2015_9599_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/4d3f535bf1e1/335_2015_9599_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/5922bc0a89a7/335_2015_9599_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/8beaabe04163/335_2015_9599_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/8c19ad2a39c2/335_2015_9599_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/d7b788eeb18b/335_2015_9599_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/7dcccbfbaec6/335_2015_9599_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb63/4602054/4d3f535bf1e1/335_2015_9599_Fig6_HTML.jpg

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本文引用的文献

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Applying the ARRIVE Guidelines to an In Vivo Database.将ARRIVE指南应用于体内数据库。
PLoS Biol. 2015 May 20;13(5):e1002151. doi: 10.1371/journal.pbio.1002151. eCollection 2015 May.
3
Phenotyping structural abnormalities in mouse embryos using high-resolution episcopic microscopy.使用高分辨率的倒置显微镜对小鼠胚胎的结构异常进行表型分析。
对产生 3313 条新基因工程小鼠品系的基因组编辑实验的关键基因的影响。
Sci Rep. 2024 Sep 30;14(1):22626. doi: 10.1038/s41598-024-72418-8.
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Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines.小鼠血浆代谢组的性别二态性与30个基因敲除品系的表型相关。
Metabolites. 2023 Aug 15;13(8):947. doi: 10.3390/metabo13080947.
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Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.颅骨特异性骨密度基因座可能对颅缝早闭产生潜在的共效作用。
Commun Biol. 2023 Jul 4;6(1):691. doi: 10.1038/s42003-023-04869-0.
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GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies.GWAS 中心:一个不断扩展的资源,用于发现和可视化全基因组关联研究中的基因型和表型数据。
Nucleic Acids Res. 2023 Jan 6;51(D1):D986-D993. doi: 10.1093/nar/gkac1017.
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