文章基本信息

标题：Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation
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作者：Seiya Mizuno ; Kohei Takami ; Yoko Daitoku 等
期刊名称：Scientific Reports
电子版ISSN：2045-2322
出版年度：2015
卷号：5
DOI：10.1038/srep13632
出版社：Springer Nature
摘要：We found a novel spontaneous mouse mutant with depigmentation in the ventral body, which we called White Spotting (WS) mouse. Genetic investigation revealed deletion of a > 1.2-Mb genomic region containing nine genes ( Kit , Kdr , Srd5a3 , Tmeme165 , Clock , Pdcl2 , Nmu , Exoc1 , and Cep135 ). We designated this mutant allele Kit ^WS. Interestingly, homozygous mutants ( Kit ^WS/WS) showed a peri-implantation lethal phenotype. Expression analyses of these nine genes in blastocysts suggested that Exoc1 was a prime candidate for this phenotype. We produced Exoc1 knockout mice, and the same peri-implantation lethal phenotype was seen in Exoc1 ^−/− embryos. In addition, the polygenic effect without Exoc1 was investigated in genome-edited Kit ^WE mice carrying the Mb-scale deletion induced by the CRISPR/Cas9 system. As Kit ^WE/WE embryos did not exhibit the abnormal phenotype, which was seen in Kit ^WS/WS. We concluded that peri-implantation lethality in Kit ^WS/WS was caused by a monogenic defect of Exoc1 .