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The BCM Knockout Mouse Production and Phenotyping Project (BCM KOMP2)

BCM 基因敲除小鼠生产和表型分析项目 (BCM KOMP2)

基本信息

批准号：
10688233
负责人：
Mary E Dickinson
金额：
$ 235万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-16 至 2027-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10688233
关键词：
Adopted Adult Alleles Anatomy Area Bioinformatics Biological Process Biology CRISPR/Cas technology Catalogs Clustered Regularly Interspaced Short Palindromic Repeats Code Collaborations Communities Cryopreservation Data Data Coordinating Center Defect Development Disease Embryo Ensure Essential Genes Exons Foundations Funding Future Generations Genes Genetic Germ Goals Human International Knockout Mice Machine Learning Mediating Medicine Methodology Mus Mutant Strains Mice Pathway interactions Phase Phenotype Procedures Production Program Development Proteins Quality Control Research Research Personnel Resources Role Site Standardization Techniques Technology Testing Time United States National Institutes of Health Work X-Ray Computed Tomography base behavior test college cost effective data quality design experience gene function genome editing human disease improved in vivo informatics infrastructure insight large scale production microCT mouse genome mutant novel novel strategies phenotypic data preclinical study repository research study technology development tool translational study

项目摘要

ABSTRACT The goal of the International Mouse Phenotyping Consortium (IMPC) is to develop a resource of null allele lines for every protein-coding gene in the mouse genome and, through standardized, broad-based phenotyping, catalog the biological function of each targeted gene. The NIH-funded Knockout Mouse Phenotyping Project (KOMP2) has supported two previous phases of null allele production and phenotyping, contributing to more than half of the null allele lines made and characterized by the IMPC. This application describes our plan for Baylor College of Medicine (BCM) to continue as a KOMP2 site during a third phase of funding. We propose to produce, cryopreserve, and phenotype null allele mouse lines for 600 protein coding genes. We have developed a bioinformatics approach to identify and prioritize genes with known or putative human disease associations but little-to-no in vivo functional annotation for null allele mouse line production. We will generate and validate null alleles using established CRISPR genome editing approaches and quality control procedures, cryopreserve all null allele lines using accepted techniques, and deliver germplasm to the MMRRC repositories for community- wide distribution. These null allele lines represent a gold standard resource for the scientific community and an important foundation for future research and translational studies. We will utilize our established pipelines to perform broad-based, standardized adult phenotyping on all mutant lines and assess homozygous lethal and subviable lines in an embryonic phenotyping pipeline. The phenotyping data we generate will provide fundamental new insights into mammalian biology as well as the genetic bases of human disease. All allele and phenotype data will be submitted in real time to the Data Coordination Center, ensuring the rapid dissemination of all BCM data to the wider biomedical scientific community. We will continue our production and phenotyping technology development programs, developing our own new approaches and adopting new methodologies from the community as they arise. The BCM KOMP2 team has the established expertise, experience, and resources to meet the proposed phase 3 goals in an efficient and cost-effective manner.

摘要