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Development and application of mouse model of Phldb1 mutation associated with multiple diseases

Research Project

Project/Area Number 16K07098
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
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)

Co-Investigator(Kenkyū-buntansha) 松岡 邦枝  公益財団法人東京都医学総合研究所, ゲノム医科学研究分野, 主席研究員 (40291158)
Research Collaborator KIKKAWA Yoshiaki  
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords白内障 / 水晶体脱臼 / PHLDB1 / 水晶体後嚢破損 / Phldb1 / 水晶体 / モデルマウス / 遺伝学
Outline of Final Research Achievements

The rlc2 mouse spontaneously exhibits lens opacity with luxation of lens nuclei, which is caused by a 1-bp insertion on the Phldb1 gene. At 2 months of age, disruption of posterior lens capsule was found in transparent lens of rlc2 mouse. Therefore, we concluded that lens opacity was caused by luxation of lens nuclei. In wild-type, PHLDB1 protein detected on anterior lens capsule of embryonic day 15.5 and postnatal day 1, and that extended to posterior capsule at postnatal day 5. The expression of PHLDB1 could not be observed in rlc2 lens capsule. Therefore, we suggested that rupture of lens capsule of rlc2 mouse was caused by a large reduction of PHLDB1 protein on lens capsule. Transcriptome analysis detected many differentially expressed genes between wild-type and rlc2 lenses. We speculated that these differentially expressed genes caused by reduction of PHLDB1 protein have roles for maintenance of lens capsule. Our results would provide new insight of PHLDB1 function on the lens.

Academic Significance and Societal Importance of the Research Achievements

本研究は、ヒト疾患との関連性が示唆されているものの、その生体内(in vivo)における機能が明らかになっていないPHLDB1が、水晶体カプセルの維持に機能することをモデル動物の解析に基づいて明らかにした初めての研究である。このことは、本研究の成果と、rlc2マウスがPHLDB1のin vivoにおける機能について、新たな知見を提供することを示している。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (3 results)

All 2018 2016

All Presentation (3 results) (of which Int'l Joint Research: 1 results,  Invited: 2 results)

  • [Presentation] 水晶体脱臼白内障モデルマウスの発症原因となるPhldb1の1塩基挿入変異2018

    • Author(s)
      吉川欣亮・和田健太・渡部 桂・松島芳文・設楽浩志・清末優子
    • Organizer
      第57回日本白内障学会総会・第44回水晶体研究会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 順遺伝学に基づく眼球疾患モデル動物の原因遺伝子の同定2018

    • Author(s)
      和田健太
    • Organizer
      第65回日本実験動物学会総会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] Identification of the gene mutations responsible for cataract in mouse and rat models.2016

    • Author(s)
      Wada, K., Kikkawa, Y.
    • Organizer
      XXII Biennial Meeting of the International Society for Eye Research
    • Place of Presentation
      東京
    • Year and Date
      2016-09-25
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited

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Published: 2016-04-21   Modified: 2020-03-30  

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