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Genetic analyses of motor ataxia mutant mice

Research Project

Project/Area Number 18500337
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Laboratory animal science
Research InstitutionThe Institute of Physical and Chemical Research

Principal Investigator

MASUYA Hiroshi  The Institute of Physical and Chemical Research, GSC, Mouse Mutation Resource Exploration team, senior research scientist (40321814)

Co-Investigator(Kenkyū-buntansha) WAKANA Shigeharu  RIKEN, GSC, Mouse Mutation Resource Exploration team, Team reader (90192434)
HIRAI Hirokazu  Gunma University, Grasuate School of Medicine, Professor (70291086)
Project Period (FY) 2006 – 2007
Project Status Completed (Fiscal Year 2007)
Budget Amount *help
¥4,020,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥420,000)
Fiscal Year 2007: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2006: ¥2,200,000 (Direct Cost: ¥2,200,000)
KeywordsMotor coodination / MutaReneis / Positional clonin / Hermansky-Pudlak Syndrome / Coat color / dilution of skin color / Disease model animal / Mouse / モデル動物 / 運動失調 / 突然変異 / 染色体マッピング / 電気生理解析 / 連鎖解析
Research Abstract

We worked out genetic mapping of five ataxia mutants derived from a large-scale mutagenesis program. As a result, M100612, M100651, M100718, M101243, M101479 were mapped on chromosomes 10, 2, 2, 11 and 6 respectively. Rotor rod analysis revealed that heterozugotes of four of five mutants showed obvious defect on motor coordination except for M101479. We worked out detailed analyses on M100651 which shows obvious ataxia and dilution of coat color. The cerebellum shows no morphological change of neuronal cells and their alignments. The cerebellum also showed any abnormalities in electrophysiologic analysis of the cerebellum. We worked out fine mapping analysis of M100651 with 591 progeny from the backcross ( (C57FIL/6J x DBA/2J)F1-M100651/+ x DBA/2J). As a result, M100651 was mapped on 7.2Mb (7152197bp) interval between genetic markers D21Mit484 (118399166-118399277bp) and D2Mit398 (125551330-125551474). We have searched candidate gene for M100651 mutation with a web-based knowledge base search system, PosMed (http://omicspace.riken.jp/PosMed/). A candidate gene for Hermansky-Pudlak Syndrome, Pldn is one of the candidate of M100651.

Report

(3 results)
  • 2007 Annual Research Report   Final Research Report Summary
  • 2006 Annual Research Report
  • Research Products

    (38 results)

All 2008 2007 2006 Other

All Journal Article (13 results) (of which Peer Reviewed: 7 results) Presentation (20 results) Book (2 results) Remarks (3 results)

  • [Journal Article] マウスを使って実験しよう5 マウスのゲノムについて知ろう2008

    • Author(s)
      桝屋啓志
    • Journal Title

      メディカルバイオ 2008.1月号

      Pages: 90-95

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Let's experiment using mice(5) -About mouse2008

    • Author(s)
      Masuya H
    • Journal Title

      Medicalbio

      Pages: 90-95

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Objective evaluation measures of marker selection in large-scale SNP genotyping2007

    • Author(s)
      Kaminuma E, et. al.
    • Journal Title

      J Bioinform Comput Biol. 3

      Pages: 1281-1293

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament.2007

    • Author(s)
      Tanaka S, et. al.
    • Journal Title

      Genomics. 90

      Pages: 703-711

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] PhenoSITE : a web database integrating mouse phenotyping platform and the experimental procedures in mice.2007

    • Author(s)
      Masuya H, et. al.
    • Journal Title

      J Bioinform Comput Biol. 5

      Pages: 1173-1191

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.2007

    • Author(s)
      Masuya H, et. al.
    • Journal Title

      Hum Mol Genet. 16

      Pages: 2366-2375

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

    • Author(s)
      Masuya H, et. al.
    • Journal Title

      Genomics 89

      Pages: 207-214

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Mutations in the helix terminnation motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament.2007

    • Author(s)
      Tanaka S, et. al.
    • Journal Title

      Genomics. 90

      Pages: 703-711

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 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)
      Masuya H, et. al.
    • Journal Title

      Genomics 89

      Pages: 207-214

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.2007

    • Author(s)
      Hiroshi Masuya
    • Journal Title

      Hum Molecular Genetics. 16

      Pages: 2366-2375

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Phenosite:a web database integrating the mouse phenotyping platform and the experimental procedures in mice.2007

    • Author(s)
      Hiroshi Masuya
    • Journal Title

      Journal of Bioinformatics and Computational Biology 5

      Pages: 1173-1191

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [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)
      Hiroshi Masuya
    • Journal Title

      Genomics 89

      Pages: 207-214

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Functional Genomics Research Group, RIKEN GSC2006

    • Journal Title

      Mouse Phenotyping Protocol

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 体系的なマウス突然変異体開発プロジェクト(2007-3):変形性関節症を示す新規Gdf5変異マウス2007

    • Author(s)
      桝屋啓志, 他
    • Organizer
      第30回日本分子生物学会年会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Year and Date
      2007-12-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] A large scale mutagenesis program(2007-3) : A novel mutant of Gdf5 shows osteoarthritis2007

    • Author(s)
      Masuya H, et. al.
    • Organizer
      BMB2007
    • Place of Presentation
      Yokohama
    • Year and Date
      2007-12-11
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Developent of informational infrastructures to share mouse phenotype andexperimental procedures of phenotyping platform with multiple institutions2007

    • Author(s)
      Masuya H, et. al.
    • Organizer
      21st International Mammalian Genome Conference (IMGC2007)
    • Place of Presentation
      京都
    • Year and Date
      2007-11-01
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Developent of informational infrastructures are mouse phenotype andexperimental procedures of phenotyping platform with multiple institutions2007

    • Author(s)
      Masuya H, et. al.
    • Organizer
      21st International Mammalian to sh Genome Conference(IMGC2007)
    • Place of Presentation
      Kyoto
    • Year and Date
      2007-11-01
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Mouse Phenotype Database in RIKEN2007

    • Author(s)
      Masuya H
    • Organizer
      The European Mouse Disease Clinic : A distributed Phenotyping Resource for Studying Human Disease.
    • Place of Presentation
      バルセロナ(スペイン)
    • Year and Date
      2007-09-20
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Mouse Phenotype Database in RIKEN2007

    • Author(s)
      Masuya H
    • Organizer
      The European Mouse Disease Clinic : A distributed Phenotyping Resource for Studying Human Disease.
    • Place of Presentation
      Barcelona
    • Year and Date
      2007-09-20
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 標準化されたマウス表現型解析基盤と表現型データベース2007

    • Author(s)
      桝屋 啓志
    • Organizer
      Neuro2007(第30回日本神経科学大会・第50回日本神経化学会大会・第17回日本神経回路学会大会)
    • Place of Presentation
      パシフィコ横浜(横浜)
    • Year and Date
      2007-09-12
    • Related Report
      2007 Annual Research Report
  • [Presentation] 標準化されたマウス表現型解析基盤と表現型データベース2007

    • Author(s)
      桝屋啓志
    • Organizer
      Neuro 2007(日本神経科学大会、日本神経化学会大会、日本神経回路学会大会合同大会)
    • Place of Presentation
      横浜
    • Year and Date
      2007-09-10
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] I, Standardized information and phenotype abase2007

    • Author(s)
      Masuya H
    • Organizer
      Neuro 2007
    • Place of Presentation
      databadat Yokohama
    • Year and Date
      2007-09-10
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 統合データベースを利用した疾患モデル動物・疾患遺伝子の検索-オミックス統合データベースの利用法-表現型カテゴリ情報を用いたマウス変異体の検索-MGIサイト及びPheno SITEでのマウス検索-2007

    • Author(s)
      桝屋 啓志
    • Organizer
      第54回日本実験動物学会総会
    • Place of Presentation
      タワーホール船堀(東京都江東区)
    • Year and Date
      2007-05-24
    • Related Report
      2007 Annual Research Report
  • [Presentation] ミュータントリソースの有効利用のためのフェノーム・セマンティクス2007

    • Author(s)
      桝屋啓志
    • Organizer
      第54回日本実験動物学会総会
    • Place of Presentation
      東京
    • Year and Date
      2007-05-23
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Phenome semantics for efficient utility of mutant resources2007

    • Author(s)
      Masuya H
    • Organizer
      The 54th Annual Meeting of the Japanese Association for Laboratory Animal Science
    • Place of Presentation
      Tokyo
    • Year and Date
      2007-05-23
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Integration of phenotype-related information in mice2007

    • Author(s)
      Masuya H
    • Organizer
      2nd Asian Mouse Mutagenesise Resource Association Meeting
    • Place of Presentation
      南京(中国)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] ENU誘発により得られた変形性関節症を示す新規Gdf5変異マウス2007

    • Author(s)
      桝屋啓志, 他
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Integration of phenotype-related information in mice2007

    • Author(s)
      Masuya H
    • Organizer
      2nd Asian Mouse Mutagenesise Resource Association Meeting
    • Place of Presentation
      Nanjin
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] A novel Gdf5 mutant of shows osteoarthritis derived from ENU mutagenesis2007

    • Author(s)
      Masuya H, et. al.
    • Organizer
      The 52nd Annual Meeting of the Japanese society of human genetics
    • Place of Presentation
      Tokyo
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] PHENOSITE(phenotype statistical information and terminology of experiments).2006

    • Author(s)
      Masuya H, et. al.
    • Organizer
      20th International Mammalian Genome Conference.
    • Place of Presentation
      チャールストン(米国)
    • Year and Date
      2006-11-12
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] PHENOSITE(phenotype statistical information and terminology of experiments).2006

    • Author(s)
      Masuya H, et. al.
    • Organizer
      20th International Mammalian Genome Conference.
    • Place of Presentation
      Charlston
    • Year and Date
      2006-11-12
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Analyses of Gene Function by ENU Induced Allele Series in Mice2006

    • Author(s)
      桝屋啓志
    • Organizer
      第53回日本実験動物学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Analyses of Gene Function by ENU Induced Allele Series in Mice2006

    • Author(s)
      Masuya H
    • Organizer
      The 53th Annual Meeting of the Japanese Association for Laboratory Animal Science
    • Place of Presentation
      Kobe
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] マウス表現型解析プロトコール(細胞工学別冊)2006

    • Author(s)
      独立行政法人理化学研究所 ゲノム科学総合研究センター ゲノム機能情報研究グループ
    • Total Pages
      232
    • Publisher
      秀潤社
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 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(「1-1modified-SHIPRA」「1-2内部透視イメージング解析法」他担当)2006

    • Author(s)
      桝屋啓志(分担執筆)
    • Total Pages
      225
    • Publisher
      秀潤社
    • Related Report
      2006 Annual Research Report
  • [Remarks] 「研究成果報告書概要(和文)」より

    • URL

      http://www.brc.riken.jp/lab/gsc/mouse/indexJ.html

    • Related Report
      2007 Final Research Report Summary
  • [Remarks]

    • URL

      http://www.gsc.riken.go.jp/Mouse/

    • Related Report
      2007 Annual Research Report
  • [Remarks]

    • URL

      http://www.gsc.riken.go.jp/Mouse/cgi-bin/search.cgi?&Year_T=3000&Month_T=12&Key=ataxia

    • Related Report
      2007 Annual Research Report

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Published: 2006-04-01   Modified: 2016-04-21  

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