Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation

• MIZUNO, Seiya

• Takami, Kohei

• Daitoku, Yoko

• Tanimoto, Yoko

• DINH, THI HUONG TRA

• Mizuno-Iijima, Saori

• Hasegawa, Yoshikazu

• TAKAHASHI, Satoru

• SUGIYAMA, Fumihiro

• YAGAMI, Ken-ichi

Abstract

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 .

Journal

• Scientific Reports

  Scientific Reports 5 13632-, 2015-09

  Nature Publishing Group

Keywords

• Multidisciplinary

Details

• CRID: 1050282677624764288
• NII Article ID: 120007136187
• DOI: 10.1038/srep13632
• ISSN: 20452322
• HANDLE: 2241/00128881
• Web Site: https://tsukuba.repo.nii.ac.jp/records/35732
• Web Site: https://www.nature.com/articles/srep13632
• Web Site: https://www.nature.com/articles/srep13632.pdf
• Text Lang: en
• Article Type: journal article
• Data Source:
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  • Crossref
  • CiNii Articles
  • KAKEN