Functional analysis of Exoc1 gene related to embryo implamtation

2016 Fiscal Year Final Research Report

• Project/Area Number: 26290028
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Laboratory animal science
• Research Institution: University of Tsukuba
• Principal Investigator: YAGAMI Ken-ichi 筑波大学, 医学医療系, 特命教授 (40166476)
• Co-Investigator(Kenkyū-buntansha): 水野 聖哉 筑波大学, 医学医療系, 助教 (10633141) ; 杉山 文博 筑波大学, 医学医療系, 准教授 (90226481)
• Co-Investigator(Renkei-kenkyūsha): TAKAHASHI Satoru 筑波大学, 医学医療系, 教授 (50271896) ; HOKAO Ryoji 動物繁殖研究所, 理事長 (80156992)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: Exoc1 / マウス / 着床障害

Outline of Final Research Achievements

The homozygous WS mice, novel spontaneous mouse mutant with white spotting in the ventral body, showed peri-implantation lethal phenotype. Exoc1 gene was suggested as a prime candidate for this phenotype. We produced Exoc1 knockout mice, and the same peri-implantation lethal phenotype was observed in Exoc1-/- embryos. In addition, the polygenic effect without Exoc1 was investigated in genome-edited mutant mice carrying the 1.02 Mb deletion allele (the region from Kit to just upstream of Exoc1) in mice using the CRISPR/Cas9 system. This introduced mutation did not affect early embryonic development.
These data indicate that Exoc1, which is located in the vicinity of the Kit gene, is the monogenic causative gene for peri-implantation lethality in the homozygous WS mice.

Free Research Field

実験動物学