The future objectives of the International Mouse Phenotyping Consortium (IMPC): functional evaluation of human disease-relevant cis-regulatory elements in the mouse genome.

doi:10.1007/s00335-026-10258-9

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The future objectives of the International Mouse Phenotyping Consortium (IMPC): functional evaluation of human disease-relevant cis-regulatory elements in the mouse genome.

Mammalian genome : official journal of the International Mammalian Genome Society - 24 Jul 2026

Kubo Naoki, Oguchi Akiko, Masuya Hiroshi, Amano Takanori, Sakashita Akihiko, Kawaji Hideya, Kasukawa Takeya, Oki Shinya, Ayabe Shinya, Takada Toyoyuki, Ogura Atsuo, Inoue Kimiko, Murakawa Yasuhiro, Tamura Masaru, Yoshiki Atsushi, Shiroishi Toshihiko

Abstract excerpt

The International Mouse Phenotyping Consortium (IMPC) has established a large-scale functional genomics resource by systematically generating and phenotyping knockout mouse lines, linking gene function to mammalian phenotypes. However, interpreting disease-associated non-coding variants remains particularly challenging due to their abundance, context-dependent activity, and the complexity of gene regulation....

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PMID: 42498815
DOI: 10.1007/s00335-026-10258-9
PMCID: PMC13400468

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