The study on the role of SIP1, the causative gene for Mowat-Wilson syndrome in human, in structural and functional development of brain using mouse system
| Project/Area Number |
23591525
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Institute for Developmental Research, Aichi Human Service Center |
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Principal Investigator |
HIGASHI Yujiro 愛知県心身障害者コロニー発達障害研究所, 周生期学部, 部長 (30181069)
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| Co-Investigator(Kenkyū-buntansha) |
NISHIZAKI Yuriko 愛知県心身障害者コロニー発達障害研究所, 周生期学部, リサーチレジデント (90378901)
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| Project Period (FY) |
2011-04-28 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | SIP1 / zeb2 / zfhx1b / モワットウィルソン症候群 / ノックアウトマウス / ZFHX1転写因子ファミリー / 脳の構造と機能 / 脳 / 精神遅滞 / 転写因子 / 遺伝・先天異常学 / モワット-ウィルソン症候群 / SIP1ノックアウトマウス / SIP1ヘテロ欠損マウス |
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| Outline of Final Research Achievements |
1) We made the SIP1-EGFP knock-in reporter mouse and analyzed the SIP1-EGFP expression pattern in detail during pre- and post-natal brain development. 2) To make the model mouse for Mowat-Wilson syndrome, we used the conditional knockout of the SIP1 gene in male germ cells to escape the difficulty in maintaining the heterozygous SIP1 knockout mice and to mimic the de novo mutation in human. We then analyzed this model mouse if they showed the relevant phenotype in relation to the symptoms in Mowat-Wilson syndrome. 3) By crossing the various Cre mouse line with SIP1 flox mouse, the SIP1 gene was deleted in the specific regions or cells in mouse brain, and we analyzed the resulting phenotype from the morphological and functional viewpoints.
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Report
(5 results)
Research Products
(6 results)
