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Mitochondrial disorders screen in ENU mutagenesis program

Research Project

Project/Area Number 17500295
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Laboratory animal science
Research InstitutionRIKEN

Principal Investigator

KANEDA Hideki  RIKEN, Mouse Mutation Resource Exploration Team, Research Scientist, 動物ゲノム変異開発研究チーム, 研究員 (00214479)

Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2006: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2005: ¥2,200,000 (Direct Cost: ¥2,200,000)
Keywordsmice / ENU / mutagenesis / mitochondria / animal model / ミュータジェネシス
Research Abstract

Maintenance and expression of mitochondrial DNA (mtDNA) depend on many nuclear encoded gene products and the respective proteins are imported into the mitochondria. The mitochondrial disease is the generic term for the diseases arising from mitochondrial malfunction and causes clinical symptoms in diverse organs. Currently, the development of the animal model mice, which is effective in finding cures and generating new drugs, are sought. The aim of our project is to develop the model mice of the mitochondrial disease. We began screening after establishing a new examination method of searching the individuals of mitochondrial malfunction which arises from nuclear gene variation. The examination targets were the individuals which were used for the genetic search for dominant/recessive traits and which had shown muscle abnormality, the leading symptom of the mitochondrial disease, at the screening of visible traits. For these individuals, we measured blood lactate level, performed histochemical analysis of muscles, and detected the deletion of mtDNA as a secondary screening to observe the functions and forms of mitochondria. These tests confirm the usefulness of the disease-model animal of the mitochondrial disease.

Report

(3 results)
  • 2006 Annual Research Report   Final Research Report Summary
  • 2005 Annual Research Report

Research Products

(15 results)

All 2007 2006 2005 Other

All Journal Article (13 results) Book (2 results)

  • [Journal Article] Behavioral Phenotypes of Disc1 Missense Mutations in Mice.2007

    • Author(s)
      Steven J.Clapcote
    • Journal Title

      Neuron 54

      Pages: 387-402

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] A Series of ENU-induced single base substitutions in a long-range cis-element alteringSonic hedgehog expression in the developing mouse limb bud.2007

    • Author(s)
      H Masuya
    • Journal Title

      Genomics 89

      Pages: 207-214

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] A Series of ENU-induced single base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.2007

    • Author(s)
      H Masuya
    • Journal Title

      Genomics 89

      Pages: 207-214

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] A Series of ENU-induced single base substitutions in a long-range cis-elemnt altering Sonic hedgehog expression in the developing mouse limb bud.2007

    • Author(s)
      Hiroshi Masuya
    • Journal Title

      Genomics 89

      Pages: 207-214

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis program.2005

    • Author(s)
      H Masuya
    • Journal Title

      Mammalian Genome 16

      Pages: 829-837

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Molecular characterization of ENU mouse mutagenesis and archives.2005

    • Author(s)
      Y Sakuraba
    • Journal Title

      Biochemical & Biophysical Research Communications 226

      Pages: 609-616

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).2005

    • Author(s)
      H Masuya
    • Journal Title

      Human Molecular Genetics 14

      Pages: 575-583

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (Al).2005

    • Author(s)
      H Masuya
    • Journal Title

      Human Molecular Genetics 14

      Pages: 575-583

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis program.2005

    • Author(s)
      Masuya H.
    • Journal Title

      Mammalian Genome 16

      Pages: 829-837

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Molecular characterization of ENU mouse mutagenesis and archives.2005

    • Author(s)
      Sakuraba Y
    • Journal Title

      Biochemical & Biophysical Research Communications. 366

      Pages: 609-616

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Enamelin (Enam) is essential for amelogenesis : ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).2005

    • Author(s)
      Masuya H.
    • Journal Title

      Human Molecular Genetics. 14

      Pages: 575-583

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 精子と胚の凍結保存法

    • Author(s)
      金田秀貴
    • Journal Title

      細胞工学別冊「マウス表現型解析プロトコール」 (印刷中)

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 体外受精

    • Author(s)
      金田秀貴
    • Journal Title

      細胞工学別冊「マウス表現型解析プロトコール」 (印刷中)

    • Related Report
      2005 Annual Research Report
  • [Book] マウス表現型解析プロトコール集 形態分析から生理機能解析まで(「9-1 精子と胚の凍結保存法」「9-2 体外受精法」)2006

    • Author(s)
      金田秀貴
    • Total Pages
      225
    • Publisher
      秀潤社
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Book] マウス表現型解析プロトコール集 形態分析から生理機能解析まで(「9-1精子と胚の凍結保存法」「9-2体外受精法」担当)2006

    • Author(s)
      金田秀貴(分担執筆)
    • Total Pages
      225
    • Publisher
      秀潤社
    • Related Report
      2006 Annual Research Report

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Published: 2005-03-31   Modified: 2016-04-21  

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