Article
Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.
Neurogastroenterology and motility - 1 Jan 2023
Cai Hui, Xiao Yongtao, Chen Shanshan, Lu Ying, Du Jun, You Yaying, Zhu Jing, Zhou Jie, Cai Wei, Wang Ying
Abstract excerpt
BACKGROUND: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and serious congenital disorder with poor outcomes, where a heterozygous missense mutation is present in the ACTG2 gene. Here, we aimed to investigate the pathogenesis of ACTG2 in MMIHS. METHODS: A cohort with 20 patients with MMIHS was screened. Actg2R257C heterozygous mutant mice were generated using the CRISPR/Cas9 system....
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