The role of SIP1, the causative gene for Mowat-Wilson syndrome, in structural and functional development of brain

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461539
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research, Aichi Human Service Center
• 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)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: モワット-ウィルソン症候群 / SIP1 遺伝子 / ZFHX1ファミリー / ZEBファミリー / ノックアウトマウス

Outline of Final Research Achievements

1. 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. 2. We made the dEF1 flox mouse and analyzed its authenticity by comparing the phenotype of the conventional homozygous knockout embryos and that of the whole body knockout derived from the flox allele combined with the CAG-cre transgene. We confirmed that the flox allele we made can be the null allele through deletion of the 6th exon flanked with LoxP sequence by cre recombinase.

Free Research Field

発生生物学