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2012 Fiscal Year Final Research Report

High-throughput development of disease model mice by using next-generation technologies.

Research Project

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Project/Area Number 21240043
Research Category

Grant-in-Aid for Scientific Research (A)

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

Principal Investigator

GONDO Yoichi  独立行政法人理化学研究所, 新規変異マウス研究開発チーム, チームリーダー (40225678)

Co-Investigator(Kenkyū-buntansha) FUKUMURA Ryutaro  独立行政法人理化学研究所, 新規変異マウス研究開発チーム, 開発研究員 (90392240)
MURATA Takuya  独立行政法人理化学研究所, 新規変異マウス研究開発チーム, 開発研究員 (70305001)
MAKINO Shigeru  独立行政法人理化学研究所, 新規変異マウス研究開発チーム, 開発研究員 (30462732)
Co-Investigator(Renkei-kenkyūsha) KIKUCHI Jun  独立行政法人理化学研究所, 先端NMR メタボミクスチーム, チームリーダー (00321753)
KAWAI Jun  独立行政法人理化学研究所, LSA システム構築グループ, プロジェクトディレクター (30391923)
Project Period (FY) 2009 – 2012
Keywordsマウス遺伝学 / 逆遺伝学 / ゲノム機能 / ミュータジェネシス / 突然変異 / 次世代シーケンシング / 量的遺伝 / ENU
Research Abstract

We have established ultra-throughput point mutation discovery system from the RIKEN ENU mutant mouse library. Based on this unique system, it is now possible to detect base substitutions with more than 1000-fold efficiency than those by conventional methods. The discovered mutations are openly available as live mutant mice to the research community. Furthermore, any epistatic interactions modeling complex traits/disease have also become detectable from the RIKNE ENU mutant mouse library.

  • Research Products

    (49 results)

All 2013 2012 2011 2010 2009 Other

All Journal Article (15 results) Presentation (30 results) Book (3 results) Remarks (1 results)

  • [Journal Article] The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis2013

    • Author(s)
      Rivkin E, Almeida SM, Ceccarelli DF, Juang YC, Maclean TA, Srikumar T, Huang H, Dunham WH, Fukumura R, Xie G, Gondo Y, Raught B, Gingras AC, Sicheri F, Cordes SP
    • Journal Title

      Nature

    • DOI

      doi:10.1038/nature12296. [Epub ahead of print] PMID: 23708998

  • [Journal Article] Epub ahead of print2013

    • Author(s)
      Toki H, Inoue M, Motegi H, Minowa O, Kanda H, Yamamoto N, Ikeda A, Karashima Y, Matsui J, Kaneda H, Miura I, Suzuki T, Wakana S, Masuya H, Gondo Y, Shiroishi T, Akiyama T, Yao R, Noda T
    • Journal Title

      Cancer Sci

      Volume: PMID: 23551873 Pages: PMID: 23551873

    • DOI

      doi: 10.1111/cas.12161.[Epub ahead of print] PMID: 23551873

  • [Journal Article] Antagonistic and cooperative actions of Kif7 and Sufu define graded intracellular Gli activities in Hedgehog signaling2012

    • Author(s)
      Law KK., Makino S, Mo R, Zhang X, Puviindran V, Hui CC
    • Journal Title

      PLoS One

      Volume: 7(11) Pages: e50193-1-e50193-8

    • DOI

      doi:10.1371/journal.pone.0050193. PMID:23166838

  • [Journal Article] Comprehensive behavioral analysis of ENU-induced Disc1-Q31L and -L100P mutant mice2012

    • Author(s)
      Shoji H, Toyama K, Takamiya Y, Wakana S, Gondo Y, Miyakawa T.
    • Journal Title

      BMC Res Notes

      Volume: 5 Pages: 108

    • DOI

      doi:10.1186/1756-0500-5-108. PMID: 22348257

  • [Journal Article] Missense mutation of the reticulon-4 receptor alters spatial memory and social interaction in mice2011

    • Author(s)
      Lazar NL, Singh S, Paton T, Clapcote SJ, Gondo Y, Fukumura R, Roder JC, Cain DP
    • Journal Title

      Behav Brain Res

      Volume: 224(1) Pages: 73-9

    • DOI

      doi:10.1016/j.bbr.2011.05.020. Epub 2011 May 27. PMID: 21645550

  • [Journal Article] ouse Mutagenesis and Disease Models for Neuropsychiatric Disorders2011

    • Author(s)
      Gondo, Y., Murata, T., Makino, S., Fukumura, R., Ishitsuka, Y
    • Journal Title

      Curr Top Behav Neurosci [Epub ahead of print 2011 Feb 5]

      Volume: 7 Pages: 1-35

    • DOI

      doi:10.1007/7854_2010_106. PMID: 21298381

  • [Journal Article] Reptiles and mammals have differentially retained long conserved non-coding sequences from the amniote ancestor2011

    • Author(s)
      Janes DE, Chapus C, Gondo Y, Clayton DF, Sinha S, Blatti CA, Organ CL, Fujita MK, Balakrishnan CN, Edwards SV
    • Journal Title

      Genome Biol Evol

      Volume: 3[Epub ahead of print 2010 Dec 23] Pages: 102-113

    • DOI

      doi:10.1093/gbe/evq087. PMID: 21183607

  • [Journal Article] ENU-based gene-driven mutagenesis in the mouse: a next-generation gene-targeting system2010

    • Author(s)
      Gondo Y, Fukumura R, Murata T, Makino S
    • Journal Title

      Exp Anim

      Volume: 59(5) Pages: 537-48

    • DOI

      PMID:21030782

  • [Journal Article] Now and future of mouse mutagenesis for human disease models2010

    • Author(s)
      Gondo Y
    • Journal Title

      J Genet Genomics

      Volume: 37(9) Pages: 559-72

    • DOI

      PMID: 20933210

  • [Journal Article] ENU mutagenesis screening for dominant behavioral mutations based on normal control data obtained in home-cage activity, open-field, and passive avoidance tests2010

    • Author(s)
      Wada Y, Furuse T, Yamada I, Masuya H, Kushida T, Shibukawa Y, Nakai Y, Kobayashi K, Kaneda H, Gondo Y, Noda T, Shiroishi T, Wakana S
    • Journal Title

      Exp Anim

      Volume: 59(4) Pages: 495-510

    • DOI

      PMID: 20660996

  • [Journal Article] Phenotypic characterization of a new Grin1 mutant mouse generated by ENU mutagenesis. Eur J Neurosci2010

    • Author(s)
      Furuse T, Wada Y, Hattori K, Yamada I, Kushida T, Shibukawa Y, Masuya H, Kaneda H, Miura I, Seno N, Kanda T, Hirose R, Toki S, Nakanishi K, Kobayashi K, Sezutsu H, Gondo Y, Noda T, Yuasa S, Wakana S
    • Journal Title

      Eur J Neurosci

      Volume: 31(7) Pages: 1281-1291

    • DOI

      PMID: 20345915

  • [Journal Article] A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice2010

    • Author(s)
      Sato H, Suzuki T, Ikeda K, Masuya H, Sezutsu H, Kaneda H, Kobayashi K, Miura I, Kurihara Y, Yokokura S, Nishida K, Tamai M, Gondo Y, Noda T, Wakana S
    • Journal Title

      Mol Vis

      Volume: 16 Pages: 378-91

    • DOI

      PMID: 20300562

  • [Journal Article] Next-generation gene targeting in the mouse for functional genomics2009

    • Author(s)
      Gondo, Y., Fukumura, R., Murata, T., Makino, S
    • Journal Title

      BMB Reports

      Volume: 42(6) Pages: 315-323

    • DOI

      PMID: 19558788

  • [Journal Article] Serine racemase is associated with schizophrenia susceptibility in humans and in a mouse model2009

    • Author(s)
      Labrie, V., Fukumura, R., Rastogi, A., Fick, L.J., Wang, W., Boutros, P.C., Kennedy, J.L., Semeralul, M.O., Lee, F.., Baker, G.B., Belsham, D.D., Barger, S.W., Gondo, Y., Wong, A.H.C., Roder, J.C
    • Journal Title

      Human Molecular Genetics

      Volume: 18(17) Pages: 3227-3243

    • DOI

      doi: 10.1093/hmg/ddp261. Epub 2009 May 30. PMID: 19483194

  • [Journal Article] ENU-induced mutant mice for a next-generation gene-targeting system2009

    • Author(s)
      Gondo, Y., Fukumura, R
    • Journal Title

      Progress in Brain Research

      Volume: 179 Pages: 29-34

    • DOI

      doi:10.1016/S0079-6123(09)17904-9. Epub 2009 Nov 20. PMID: 20302815

  • [Presentation] From monogenic to polygenic modeling of human diseases by mouse mutagenesis and next-generation sequencing (NGS)2013

    • Author(s)
      Gondo Y, Fukumura R, Murata T, Makino S
    • Organizer
      Joint Conference of Human Genome Meeting 2013 and 21st International Congress of Genetics. Singapore
    • Place of Presentation
      Singapore
    • Year and Date
      2013-04-16
  • [Presentation] High-resolution detection of germline single nucleotide variations in the mouse by next-generation re-sequencing2013

    • Author(s)
      Gondo Y
    • Organizer
      International Workshop: RERF Radiation Research in the Post-genomic Era Hiroshima Japan
    • Place of Presentation
      招待講演
    • Year and Date
      2013-03-07
  • [Presentation] Destabilization of FLICE-like inhibitory protein long (FLIPL), an anti-apoptotic and anti-necrotic protein, through ubiquitin-proteasome system by a stop codon read-through mutation2013

    • Author(s)
      Shibata N, Ohoka N, Sakuraba Y, Gondo Y, Naito M
    • Organizer
      The 9th AACR-Japanese Cancer Association Joint Conference: Breakthroughs in Basic and Translational Cancer Research
    • Place of Presentation
      Maui, USA
    • Year and Date
      2013-02-22
  • [Presentation] SNV/SNP 検出を目的とした次世代シーケンシングと問題点:理研ENU 変異マウスライブラリーの提供2013

    • Author(s)
      権藤洋一
    • Organizer
      第30回生命医科学セミナー
    • Place of Presentation
      福岡 招待講演
    • Year and Date
      2013-02-04
  • [Presentation] New reverse genetics for human disease modeling with the next generation sequencing (NGS) of whole mouse exome2012

    • Author(s)
      Gondo Y
    • Organizer
      The 7th SALAS and 6th AMMRA Regional Conference 2011. Singapore
    • Place of Presentation
      Singapore, Singapore 招待講演
    • Year and Date
      20121100-1200
  • [Presentation] Toward the modeling complex traits and gene-to-gene interactions2012

    • Author(s)
      Gondo Y
    • Organizer
      The 6th AMMRA Council Meeting
    • Place of Presentation
      Singapore, Singapore 招待講演
    • Year and Date
      20121100
  • [Presentation] 次世代シーケンサーを用いたマウスゲノムにおける変異検出2012

    • Author(s)
      権藤洋一,福村龍太郎,小瀧逸人
    • Organizer
      日本環境変異原学会第40回大会
    • Place of Presentation
      東京,日本 シンポジウム招待講演
    • Year and Date
      20121100
  • [Presentation] 次世代テクノロジーを導入した逆遺伝学とモデルマウスの開発.招待講演2012

    • Author(s)
      権藤洋一
    • Organizer
      都医学研セミナー(平成23 年度開催分)
    • Place of Presentation
      東京 日本
    • Year and Date
      20121100
  • [Presentation] Epithelial Organizations were defected during seminal vesicle and vaginal formation in a new Ctnnb1 infertile model mouse2012

    • Author(s)
      Murata T, Toki H, Ishitsuka Y, Kaneda H, Makino S, Fukumura R, Wakana S, Noda T, Gondo Y
    • Organizer
      The 26th International Mammalian Genome Conference (IMGC2012)
    • Place of Presentation
      St. Pete Beach USA 口演採択演題
    • Year and Date
      20121000
  • [Presentation] Exome target enrichment kit for NGS of a model organism, mouse: Assessment of NGS analysis pipelines by bona fide reference sequence and positive control dataset2012

    • Author(s)
      Gondo Y
    • Organizer
      The 2nd Next Generation Sequencing Asia Congress 2012. Singapore
    • Place of Presentation
      Singapore
    • Year and Date
      20121000
  • [Presentation] 単一遺伝子形質と量的形質のあいだをつなぐ新しい変異マウスライブラリーの開発と利用公開2012

    • Author(s)
      権藤洋一,福村龍太郎,村田卓也,牧野茂
    • Organizer
      日本遺伝学会第83回大会
    • Place of Presentation
      京都, 日本
    • Year and Date
      20120900
  • [Presentation] Developments in Mutagenesis and Genomics: a RIKEN perspective2012

    • Author(s)
      Gondo Y
    • Organizer
      The 3rd Mouse Neurological and Behavioural Forum (MNBF3)
    • Place of Presentation
      Sheffield, UK
    • Year and Date
      20120700
  • [Presentation] Feasibility study of genomewide quantitative trait analysis based on ENU mutant mouse library and deep exome sequencing.(selected for oral presentation)2012

    • Author(s)
      Gondo Y
    • Organizer
      Complex Trait Community 11th Annual Meeting (CTC2012)
    • Place of Presentation
      Paris, France 口演採択演題
    • Year and Date
      20120600
  • [Presentation] Deep sequencing of mouse exome for modeling human diseases encompassing gene-to-gene interactions. Mouse Genetics 20112012

    • Author(s)
      Gondo Y, Fukumura R, Murata T, Makino S
    • Organizer
      Joint Conference of the IMGS, CTC, and GSA
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20120600
  • [Presentation] 理研ENU 変異マウスライブラリーの新しい利用システム:NGS を活用した多因子疾患モデルの提供2012

    • Author(s)
      権藤洋一
    • Organizer
      第4回RCAI-CGM 合同セミナー
    • Place of Presentation
      横浜 招待講演
    • Year and Date
      20120500
  • [Presentation] ENU mutagenesis in the mouse and next-generation sequencing2012

    • Author(s)
      Gondo Y
    • Organizer
      FDA/NCTR Seminar
    • Place of Presentation
      Jefferson, USA 招待講演
    • Year and Date
      20120500
  • [Presentation] Deep mouse exome sequencing provides positive and negative control dataset for the NGS pipeline for variant detection2012

    • Author(s)
      Gondo Y
    • Organizer
      The 14th MAQC/SEQC Project Meeting: Advancing Translational and Regulatory Sciences for Personalized Medicine
    • Place of Presentation
      Washington DC, USA 招待講演
    • Year and Date
      20120500
  • [Presentation] Evaluation of deep exome sequencing for the discovery of novel SNPs and de novo mutations by using the mouse model2012

    • Author(s)
      Gondo Y, Fukumura R, Murata T, Makino S
    • Organizer
      X-Gen Congress and Expo
    • Place of Presentation
      San Diego, USA. March (Oxford Nanopore Poster Award 受賞)
    • Year and Date
      20120300
  • [Presentation] 遺伝子間相互作用まで視野に入れた疾患モデルマウスの逆遺伝学的開発と利用2012

    • Author(s)
      権藤洋一
    • Organizer
      発生工学・疾患モデル研究会第91回定例会「ラットとマウスの新たな展開」
    • Place of Presentation
      東京 招待講演
    • Year and Date
      20120200
  • [Presentation] Complex traits とENU mutagenesis; Reverse Genetics からForward へ2012

    • Author(s)
      村田卓也, 福村龍太郎, 牧野茂, 権藤洋一
    • Organizer
      平成24 年度国立遺伝学研究所研究会「マウスForward Genetics の新潮流:Common diseases(complex traits)のマウス遺伝学」
    • Place of Presentation
      三島市 招待講演
    • Year and Date
      2012-12-07
  • [Presentation] 遺伝子間相互作用も視野に入れたモデルマウスの提供2011

    • Author(s)
      権藤洋一
    • Organizer
      第558回北里医学会学術講演会
    • Place of Presentation
      相模原市、神奈川県
    • Year and Date
      2011-03-07
  • [Presentation] Target sequencing of whole mouse exome: new bioresources for modeling human genome analyses2011

    • Author(s)
      Gondo Y, Fukumura R
    • Organizer
      International Conference on the Status of Plant and Animal Genome Research (PAG-XIX)
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2011-01-17
  • [Presentation] Mutant mouse: bona fide biosimulator with various next-generation technologies for new information biology2011

    • Author(s)
      Gondo, Y
    • Organizer
      The 9th Asia Pacific Bioinformatics Conference (APBC2011)
    • Place of Presentation
      Incheon, Korea
    • Year and Date
      2011-01-13
  • [Presentation] Toward the development of new epistatic mouse model resources with the next-generation sequencers2010

    • Author(s)
      Gondo Y
    • Organizer
      The 4th AFLAS Congress Meeting/5th AMMRA Annual Meeting/11th CSLAS Annual Meeting
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2010-11-08
  • [Presentation] New sterile model mouse from RIKEN ENU-based gene-driven mutagenesis2010

    • Author(s)
      Murata, T., Makino, S., Fukumura, R., Gondo, Y
    • Organizer
      The 24th International Mammalian Genome Conference (IMGC2010)
    • Place of Presentation
      Crete, Greece
    • Year and Date
      2010-10-18
  • [Presentation] 次世代版ジーンターゲッティングシステムに基づく遺伝子間相互作用解明のためのモデルマウスリソース2010

    • Author(s)
      権藤洋一、福村龍太郎、村田卓也、牧野茂
    • Organizer
      日本遺伝学会第82回大会
    • Place of Presentation
      札幌
    • Year and Date
      2010-09-21
  • [Presentation] 超高速シーケンサーによる全マウスエキソーム解析: 機能変異およびSNPの網羅的探索に向けて2010

    • Author(s)
      権藤洋一
    • Organizer
      2010アジレントゲノミクスフォーラム
    • Place of Presentation
      東京. 招待基調講演
    • Year and Date
      2010-06-10
  • [Presentation] Functional genomics with next-generation gene-targeting2009

    • Author(s)
      Gondo, Y., Fukumura, R., Murata, T., Makino, S. (2009)
    • Organizer
      The 8th International Workshop on Advanced Genomics Expansion of Genome Science (AGW2009)
    • Place of Presentation
      Tokyo, Japan
    • Year and Date
      20090600
  • [Presentation] Trends in the Mouse Mutagenesis Projects and Future Perspectives of Asian Network2009

    • Author(s)
      Gondo, Y
    • Organizer
      The 2009 Symposium of the Korean Association for Laboratory Animal Science (KALAS)
    • Place of Presentation
      Cheongju, Korea
    • Year and Date
      20090400
  • [Presentation] Long Conserved Noncoding Sequences (LCNS) in Vertebrates2009

    • Author(s)
      Gondo, Y
    • Organizer
      The 13th Evolutionary Biology Meeting at Marseilles,
    • Place of Presentation
      Marseilles, France
    • Year and Date
      2009-09-02
  • [Book] Mouse Models for Human Diseases by Forward and Reverse Genetics.in "Animal Models for the Study of Human Disease (Ed. by M. Conn)2013

    • Author(s)
      Gondo Y
    • Publisher
      Academic Press/Elsevier, in press
  • [Book] 第II 部新しいリソース・リサーチツール第1 章 新しいリソース第1節 マウスの第3 項ENU マウスミュータジェネシス.「生物機能モデルと新しいリソース・リサーチツール」2011

    • Author(s)
      福村龍太郎、権藤洋一
    • Total Pages
      445-453
    • Publisher
      エル.アイ.シー
  • [Book] Do Long and Highly Conserved Noncoding Sequences in Vertebrates Have Biological Functions? In "Evolutionary Biology: Concepts, Molecular and Morphological Evolution" (ed. P. Pontarotti)2010

    • Author(s)
      Gondo, Y
    • Total Pages
      187-206
    • Publisher
      Springer, Heidelberg, Germany
  • [Remarks]

    • URL

      http://www.brc.riken.jp/lab/intro_mutants.html

URL: 

Published: 2014-08-29  

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