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Identification of causative gene mutation for microphthalmia in rat, and its application for establishment of novel mouse models

Research Project

Project/Area Number 26830057
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Laboratory animal science
Research InstitutionTokyo University of Agriculture

Principal Investigator

Wada Kenta  東京農業大学, 生物産業学部, 准教授 (20508113)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords小眼球症 / 無眼球症 / ラットモデル / ラット
Outline of Final Research Achievements

The Nodai aphakia (NAK/Nokh) rat is one of the promising model for human microphthalmia which exhibits complete lack of the eye. We have reported that intercross progenies between NAK rat and other strains showed heterogeneous phenotypes as bilateral or unilateral anophthalmia or microthalmia, and have suggested that major causative gene mutation is in chromosome 16 and 2. We conducted RNA-seq and WGS analysis in order to identify gene mutations associated with NAK phenotype, and detected four candidate genes. One of them, we determined cDNA sequence, and identified NAK specific missense mutation. Therefore, we suggested that a missense mutation of this gene is one of causative gene mutation associate with NAK phenotype. In addition, we revealed that several marker protein for retinal development decreased in retina of NAK. Therefore, we suggested that loss of NAK embryonic eye is caused by defects of retinal development.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • Research Products

    (5 results)

All 2016 2015 2014

All Presentation (5 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results)

  • [Presentation] NAK/Nokhラットの無眼球症に関与する複数の遺伝子座2016

    • Author(s)
      和田健太・宗形春花・内山博允・大久保 咲・橋詰良一・吉川欣亮
    • Organizer
      第63回日本実験動物学会総会
    • Place of Presentation
      川崎
    • Year and Date
      2016-05-18
    • Related Report
      2015 Annual Research Report
  • [Presentation] Identification of genetic mutation of the transcription factor encoding genes for lens development in mice2015

    • Author(s)
      Wada K, Kikkawa Y
    • Organizer
      International Conference on the Lens (ICL) 2015
    • Place of Presentation
      Kona, Hawaii
    • Year and Date
      2015-12-06
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 無眼球症ラットNAK/NokhにおけるRNA-seq解析2015

    • Author(s)
      大久保 咲、内山博允、石原真吾、橋詰良一、吉川欣亮、和田健太
    • Organizer
      第62回日本実験動物学会総会
    • Place of Presentation
      京都
    • Year and Date
      2015-05-28 – 2015-05-30
    • Related Report
      2014 Research-status Report
  • [Presentation] 無眼球症ラットNAK/Nokhの眼球発生異常と原因遺伝子座の特定2015

    • Author(s)
      大久保 咲・吉野猛郎・三瓶 早穂里・橋詰良一・吉川欣亮・和田健太
    • Organizer
      第62回日本実験動物学会総会
    • Place of Presentation
      京都
    • Year and Date
      2015-05-28
    • Related Report
      2015 Annual Research Report
  • [Presentation] 無眼球症ラットNAK/Nokhの眼球発生異常と原因遺伝子座の特定2014

    • Author(s)
      大久保 咲、吉野猛郎、三瓶早穂里、橋詰良一、吉川欣亮、和田健太
    • Organizer
      第61回日本実験動物学会総会
    • Place of Presentation
      札幌
    • Year and Date
      2014-05-15 – 2014-05-17
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2017-05-10  

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