A haploinsufficient gene and the modification factors : Spectrum changing of cardiovascular anomalies in the Foxc2 mutant mouse by genetic backgrounds and maternal factors

• Project/Area Number: 21591400
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: MORISHIMA Masae 東京女子医科大学, 医学部, 助教 (00241068)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2011: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 循環器発生 / 遺伝子疾患 / ハプロ不全遺伝子 / microdeletion症候群 / ハプロ不全

Research Abstract

Foxc2 is one of the haploinsufficient gene of which mutant causes cardiovascular anomalies. This project was done to analyze the cardiovascular anomalies in the Foxc2 mutant mouse from different background strains and the modification factors. The phenotype of the cardiovascular anomaly was variational depending on the genetic background. Analysis of the mutant embryos indicated that not only the cascade genes of Foxc2 but also the others, such as maternal hyperlipidemia, could affect to make the genetic anomaly severer.

Research Products

• [Journal Article] Foxc2欠失マウス胎仔におけるリンパ管の形態形成 (2012)
  • Author(s): 森島正恵、清水一彦、久米努、江崎太一
  • Journal Title: リンパ学Japanese Journal of Lymphology Volume: (in press)
• [Journal Article] Repply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivateves in mice (2011)
  • Author(s): Takashi Okubo, Akinori Kawamura, Jun Takahashi, Hisato Yagi, Masae Morishima, Rumiko Matsuoka, Shinji Takada
  • Journal Title: Devlopment Volume: 138 Pages: 229-348
  • Peer Reviewed
• [Journal Article] Genetic analysis of Down syndrome-associated heart defects in mice (2011)
  • Author(s): Liu C, Morishima M, et al
  • Journal Title: Human Genetics Volume: 130 Issue: 5 Pages: 623-632
  • DOI: 10.1007/s00439-011-0980-2
  • Peer Reviewed
• [Journal Article] Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice (2011)
  • Author(s): Tadashi Okubo
  • Journal Title: Development Volume: Vol.138 Pages: 339-348
  • Peer Reviewed
• [Journal Article] Foxc2欠失マウス胎仔におけるリンパ管の形態形成
  • Author(s): 森島正恵, 清水一彦, 久米努, 江崎太一
  • Journal Title: リンパ学 Volume: 35巻(掲載確定)
• [Presentation] Pharyngeal Arch Anomalies in Foxc2 Null Mouse Embryos (2011)
  • Author(s): Masae Morishima, Kazuhiko Shimizu, Shun-ichi Morikawa, Tsutomu Kume, Toshio Nakanishi, Taichi Ezki
  • Organizer: Weinstein Cardiovascular Development Conference
  • Place of Presentation: Chincinnati, OH, USA
  • Year and Date: 2011-05-05
• [Presentation] Foxc2欠失マウス胎仔におけるリンパ管の形態形成 (2011)
  • Author(s): 森島正恵, 清水一彦, 久米努, 江崎太一
  • Organizer: 第35回日本リンパ学会総会シンポジウム
  • Place of Presentation: 東京
  • Year and Date: 2011-05-03
• [Presentation] Foxc2欠失マウス胎仔におけるリンパ管の形態形成 (2011)
  • Author(s): 禁島正恵、清水一彦、久米努、江崎太一
  • Organizer: 第35回日本リンパ学会総会シンポジウム
  • Place of Presentation: 東京(招待講演)
  • Year and Date: 2011-05-03
• [Presentation] Foxc2欠失マウスにおける鰓弓異常の形態学的特徴 (2011)
  • Author(s): 森島正恵, 江崎太一
  • Organizer: 第88回日本生理学会大会第116回日本解剖学会総会・全国学術集会合同大会
  • Place of Presentation: 横浜
  • Year and Date: 2011-03-29
• [Presentation] Morphological Characterization of the Pharyngeal Arch Anomalies in the Foxc2 Null Mouse (2011)
  • Author(s): 森島正恵
  • Organizer: 第116回日本解剖学会総会
  • Place of Presentation: パシフィコ横浜(神奈川県)
  • Year and Date: 2011-03-29
• [Presentation] Genetics of Down syndrome : Focus on cardiovascular malformations (2011)
  • Author(s): Liu C, Morishima M, et al
  • Organizer: Weinstein Cardiovascular Development Conference
  • Place of Presentation: Cincinnati, OH, USA
• [Presentation] Pharyngeal Arch Anomalies in Foxc2 Null Mouse Embryos (2011)
  • Author(s): Morishima M, et al
  • Organizer: Weinstein Cardiovascular Development Conference
  • Place of Presentation: Cincinnati, OH, USA
• [Presentation] The genetic background and maternal intake of fat diet affect the risk of having offspring with congenital heart disease (2010)
  • Author(s): Masae Morishima, Hisato Yagi, Tsutomu Kume, Rumko Matsuoka
  • Organizer: International Research and educational Institute for Integrated Medical Sciences Symposium
  • Place of Presentation: Tokyo
  • Year and Date: 2010-02-08
• [Presentation] Foxc2欠損マウスにおける心血管奇形の系統差 (2009)
  • Author(s): 森島正恵, 八木寿人, 久米努, 松岡留美子
  • Organizer: 第8回心臓血管発生研究会
  • Place of Presentation: 郡山
  • Year and Date: 2009-07-25
• [Presentation] Foxc2欠損マウスにおける心血管奇形と系統差。 (2009)
  • Author(s): 森島正恵
  • Organizer: 第8回心臓血管研究会
  • Place of Presentation: 磐梯熱海(福島県)
  • Year and Date: 2009-07-25
• [Presentation] Spectrum of the Cardiovascular Anomalies and the Background Strain in the Foxc2 Deficient Mouse (2009)
  • Author(s): Masae Morishima, Hisato Yagi, Tsutomu Kume, Rumiko Matsuoka
  • Organizer: Weinstein Cardiovascular Development Conference
  • Place of Presentation: Sanfrancisco, USA
  • Year and Date: 2009-05-08
• [Remarks] 「Morishima M et al. Spectrum of the CardiovascularAnomalies and the Background Strain in the Foxc2 Deficient Mouse. Weinstein Cardiovascular Development Conference, San Francisco, USA, May 7-9 2009」はインフルエンザによる渡航禁止令のため、抄録上での発表。