Department of Surgery, School of Medicine, University of California, Davis, California, USA.
Mouse Biology Program, University of California, Davis, California, USA.
Mamm Genome. 2024 Dec;35(4):537-543. doi: 10.1007/s00335-024-10068-x. Epub 2024 Sep 10.
The International Mouse Phenotyping Consortium (IMPC) is a worldwide effort producing and phenotyping knockout mouse lines to expose the pathophysiological roles of all genes in human diseases and make mice and data available and accessible to the global research community. It has created new knowledge on the function of thousands of genes for which little to anything was known. This new knowledge has informed the genetic basis of rare diseases, posited gene product influences on common diseases, influenced research on targeted therapies, revealed functional pleiotropy, essentiality, and sexual dimorphism, and many more insights into the role of genes in health and disease. Its scientific contributions have been many and widespread, however there remain thousands of "dark" genes yet to be illuminated. Nearing the end of its current funding cycle, IMPC is at a crossroads. The vision forward is clear, the path to proceed less so.
国际小鼠表型分析联盟（IMPC）是一个全球性的努力，旨在生产和表型分析敲除小鼠品系，以揭示所有人类疾病相关基因的病理生理作用，并使小鼠和数据可供全球研究界使用和访问。它为数千个以前知之甚少的基因的功能创造了新的知识。这些新知识阐明了罕见疾病的遗传基础，提出了基因产物对常见疾病的影响，影响了靶向治疗的研究，揭示了功能多效性、必需性和性别二态性，以及更多关于基因在健康和疾病中的作用的见解。它的科学贡献是多方面的，然而，仍有成千上万的“暗”基因有待阐明。在当前资助周期接近尾声之际，IMPC 正处于十字路口。未来的愿景很明确，但前进的道路却不那么清晰。
