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Development of a new method to generate the model animal of human chromosomal disorders

Research Project

Project/Area Number 24650241
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeSingle-year Grants
Research Field Laboratory animal science
Research InstitutionInstitute of Physical and Chemical Research (2013)
National Institute of Genetics (2012)

Principal Investigator

TAMURA Masaru  独立行政法人理化学研究所, バイオリソースセンター, 開発研究員 (50370119)

Project Period (FY) 2012-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsマウス / 染色体異常疾患 / トリソミー / モデル動物 / CRE/loxP / トランスポゾン / モノソミー
Research Abstract

It is estimated that over 1% of human newborn have some kind of chromosomal anomalies including partial trisomy. Although incidence of chromosomal abnormalities is high, molecular mechanisms and causative genes of chromosomal disorders remain unclear, because we have no animal model of most part of chromosomal diseases. In this study, we challenged the development of the new method that created the model animal of chromosomal disorders using the CRE/loxP technology and local hopping system of transposon. We inserted the loxP and Tol2 transposon into the mouse genome by transgenic or homologous recombination techniques. We obtained several transgenic mouse lines and ES cell lines, and established the platform to generate the model animal of chromosomal disorders. In addition, we tried to develop the new phenotyping method using the micro computed tomography and contrast agents. These new techniques will help us to understand the molecular mechanism of human chromosomal disorders.

Report

(3 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • Research Products

    (30 results)

All 2014 2013 2012 Other

All Journal Article (8 results) (of which Peer Reviewed: 8 results,  Open Access: 1 results) Presentation (16 results) (of which Invited: 2 results) Book (6 results)

  • [Journal Article] The Hand2 gene dosage effect in developmental defects and human congenital disorders2014

    • Author(s)
      Tamura M., Amano T. and Shiroishi T.
    • Journal Title

      Curr. Top. Dev. Biol

      Volume: (in-press)

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Prdm9 polymorphism unveils mouse evolutionary tracks2014

    • Author(s)
      Kono H., Tamura M., Osada N., Suzuki H., Abe K., Moriwaki K., Ohta K. and Shiroishi T.
    • Journal Title

      DNA Res

      Volume: (in-press)(PMID:24505791)

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Prdm9 Polymorphism Unveils Mouse Evolutionary Tracks2014

    • Author(s)
      Kono H, Tamura M, Osada N, Suzuki H, Abe K, Moriwaki K, Ohta K, Shiroishi T
    • Journal Title

      DNA Research

      Volume: - Issue: 3 Pages: 315-326

    • DOI

      10.1093/dnares/dst059

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] The Hand2 gene dosage effect in developmental defects and human congenital disorders.2014

    • Author(s)
      Tamura M., Amano T. and Shiroishi T.
    • Journal Title

      Current Topics in Developmental Biology

      Volume: 印刷中

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Phenotype detection in morphological mutant mice using deformation features2013

    • Author(s)
      Roy S., Liang X., Kitamoto A., Tamura M., Shiroishi T. and Brown MS.
    • Journal Title

      Med. Image Comput. Comput-Assist. Interv.

      Volume: 16(PMID:24505791) Pages: 437-444

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Functional conservation of Gsdma cluster genes specifically duplicated in the mouse genome.2013

    • Author(s)
      Tanaka S., Mizushina Y., Kato Y., Tamura M. and Shiroishi T.
    • Journal Title

      G3: Genes, Genomes, Genetics

      Volume: 3 Issue: 10 Pages: 1843-1850

    • DOI

      10.1534/g3.113.007393

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Over-dosage of Hand2 causes limb and heart defects in human chromosomal disorder, partial trisomy distal 4q2013

    • Author(s)
      Tamura M., Hosoya M., Fujita M., Iida T., Amano T., Maeno A., Kataoka T., Otsuka T., Tanaka S, Tomizawa S. and Shiroishi T.
    • Journal Title

      Hum. Mol. Genet

      Volume: 22 Issue: 12 Pages: 2471-2481

    • DOI

      10.1093/hmg/ddt099

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Phenotype detection in morphological mutant mice using deformation features.2013

    • Author(s)
      Roy S., Liang X., Kitamoto A., Tamura M., Shiroishi T. and Brown MS.
    • Journal Title

      Medical Image Computing and Computer-Assisted Intervention

      Volume: 16 Pages: 437-444

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Presentation] マウスモデルを用いたヒト染色体異常疾患の解析 : ヒト4番染色体長腕部分重複症をモデルとして2014

    • Author(s)
      田村勝,若菜茂晴,城石俊彦
    • Organizer
      第61回実験動物学会総会
    • Place of Presentation
      札幌コンベンションセンター
    • Related Report
      2013 Final Research Report
  • [Presentation] マウスモデルを用いたヒト染色体異常疾患の解析:ヒト4番染色体長腕部分重複症をモデルとして2014

    • Author(s)
      田村 勝
    • Organizer
      第61回実験動物学会総会
    • Place of Presentation
      札幌コンベンションセンター(北海道)
    • Related Report
      2013 Annual Research Report
  • [Presentation] Micro-Computed Tomography (micro-CT)による軟組織高速イメージング2013

    • Author(s)
      田村勝
    • Organizer
      第2回実験動物科学シンポジウム新たなライフサイエンス研究の展開?鳥類リソースの整備と活用に向けて-
    • Place of Presentation
      名古屋大学
    • Year and Date
      2013-12-09
    • Related Report
      2013 Final Research Report
    • Invited
  • [Presentation] Introduction of Mouse phenotyping using the Micro Computed Tomography2013

    • Author(s)
      Masaru Tamura
    • Organizer
      2013 Asian Mouse Mutagenesis and Resource Association (AMMRA)/ Asia Mouse Phenotyping Consortium (AMPC) Annual Meeting and Workshop on Mouse Model Research
    • Place of Presentation
      RIKEN BRC, Tsukuba, Japan
    • Year and Date
      2013-05-18
    • Related Report
      2013 Final Research Report
  • [Presentation] X-Ray data (X-ray & micro-CT)2013

    • Author(s)
      Masaru Tamura, Yasuyo Kozawa, Kazuhiro Hirota, Toshihiko Shiroishi, Shigeharu Wakan
    • Organizer
      International Mouse Phenotyping Consortium Phenotyping Workshop
    • Place of Presentation
      CNR Headquarters, Rome, Italy
    • Related Report
      2013 Final Research Report
  • [Presentation] Micro-Computed Tomography (micro-CT)を用いた軟組織表現型高速イメージング2013

    • Author(s)
      田村勝
    • Organizer
      日本遺伝学会第85回大会
    • Place of Presentation
      慶応大学
    • Related Report
      2013 Final Research Report
  • [Presentation] Micro-Computed Tomography (micro-CT)を用いたマウス形態計測2013

    • Author(s)
      田村勝
    • Organizer
      第60回実験動物学会総会ワークショップ<次世代マウス表現型解析技術の潮流>
    • Place of Presentation
      つくば国際会議場
    • Related Report
      2013 Final Research Report
  • [Presentation] X-Ray data (X-ray & micro-CT)2013

    • Author(s)
      Tamura M., Kozawa Y., Hirota K., Shiroishi T. and Wakana S.
    • Organizer
      International Mouse Phenotyping Consortium Phenotyping Workshop
    • Place of Presentation
      CNR Headquarters (Rome, Italy)
    • Related Report
      2013 Annual Research Report
  • [Presentation] Micro-computed tomography (micro-CT)を用いた軟組織表現型高速イメージング2013

    • Author(s)
      田村 勝
    • Organizer
      日本遺伝学会第85回大会
    • Place of Presentation
      慶応大学(神奈川県)
    • Related Report
      2013 Annual Research Report
  • [Presentation] Micro-Computed Tomography (micro-CT)を用いたマウス形態計測2013

    • Author(s)
      田村 勝
    • Organizer
      第60回実験動物学会総会 ワークショップI 「次世代マウス表現型解析技術の潮流」
    • Place of Presentation
      つくば国際会議場(茨城県)
    • Related Report
      2013 Annual Research Report
  • [Presentation] ヒト4q-terに存在する複数遺伝子の量比は、頭蓋顔面骨形成に関与する2012

    • Author(s)
      田村勝,城石俊彦
    • Organizer
      日本遺伝学会第84回大会
    • Place of Presentation
      九州大学
    • Related Report
      2013 Final Research Report
  • [Presentation] 組織をみる : 古典組織学VS Micro-Computed Tomography2012

    • Author(s)
      田村勝
    • Organizer
      第25回モロシヌス研究会
    • Place of Presentation
      東京大学
    • Related Report
      2013 Final Research Report
  • [Presentation] ヒト4q-terに存在する複数遺伝子の量比は、頭蓋顔面骨形成に関与する2012

    • Author(s)
      田村勝、城石俊彦
    • Organizer
      日本遺伝学会第83回大会
    • Place of Presentation
      九州大学 医学部(福岡県)
    • Related Report
      2012 Research-status Report
  • [Presentation] 組織をみる:古典組織学 VS Micro-Computed Tomography2012

    • Author(s)
      田村勝
    • Organizer
      第25回モロシヌス研究会
    • Place of Presentation
      東京大学 農学部(東京都)
    • Related Report
      2012 Research-status Report
  • [Presentation] Micro-Computed Tomography (micro-CT)による軟組織高速イメージング

    • Author(s)
      田村 勝
    • Organizer
      第2回実験動物科学シンポジウム 新たなライフサイエンス研究の展開 -鳥類リソースの整備と活用に向けて-
    • Place of Presentation
      名古屋大学(愛知県)
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Introduction of Mouse phenotyping using the Micro Computed Tomography

    • Author(s)
      Tamura M.
    • Organizer
      2013 Asian Mouse Mutagenesis and Resource Association (AMMRA)/Asia Mouse Phenotyping Consortium (AMPC) Annual Meeting and Workshop on Mouse Model Research
    • Place of Presentation
      RIKEN BRC (Tsukuba, Japan)
    • Related Report
      2013 Annual Research Report
  • [Book] 遺伝子図鑑(国立遺伝学研究所「遺伝子図鑑」編集委員会)10-2:動物の品種改良2013

    • Author(s)
      田村勝
    • Publisher
      悠書館
    • Related Report
      2013 Final Research Report
  • [Book] マウス実験の基礎知識第2版(小出剛編集)第5章:マウスの解剖について知ろう2013

    • Author(s)
      田村勝
    • Publisher
      オーム社
    • Related Report
      2013 Final Research Report
  • [Book] マウス実験の基礎知識第2版(小出剛編集)第6章:マウスの胎仔を見てみよう2013

    • Author(s)
      田村勝,前野哲輝,天野孝紀
    • Publisher
      オーム社
    • Related Report
      2013 Final Research Report
  • [Book] マウス実験の基礎知識 第2版 第5章:マウスの解剖について知ろう2013

    • Author(s)
      田村 勝
    • Publisher
      オーム社
    • Related Report
      2013 Annual Research Report
  • [Book] マウス実験の基礎知識 第2版 第6章:マウスの胎仔を見てみよう2013

    • Author(s)
      田村 勝、前野 哲輝、天野 孝紀
    • Publisher
      オーム社
    • Related Report
      2013 Annual Research Report
  • [Book] 遺伝子図鑑 10-2 動物の品種改良2013

    • Author(s)
      田村 勝
    • Publisher
      悠書館
    • Related Report
      2013 Annual Research Report

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Published: 2013-05-31   Modified: 2019-07-29  

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