Establishment of a new mouse model of cledocranial dysplasia by TALEN mediated genome editing

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K15780
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Functional basic dentistry
• Research Institution: Hiroshima University
• Principal Investigator: Shukunami Chisa 広島大学, 医歯薬保健学研究科(歯), 教授 (60303905)
• Co-Investigator(Kenkyū-buntansha): 三浦 重徳 京都大学, 再生医科学研究所, 研究員 (70511244)
• Co-Investigator(Renkei-kenkyūsha): Yamamoto Takashi 広島大学, 大学院理学研究科, 教授 (90244102) ; Sakuma Tetsushi 広島大学, 大学院理学研究科, 特任講師 (90711143)
• Research Collaborator: Yuki Yoshimoto 広島大学, 大学院医歯薬保健学研究科・医歯薬学専攻, 特任助教 (40735304)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 膜性骨化 / Runx2 / ゲノム編集 / 点変異 / 歯根

Outline of Final Research Achievements

A new mouse model for cleidocranial dysplasia (CCD) has been successfully established by introducing the R232Q mutation into mouse Runx2 gene using transcription activator-like effector nucleases mediated gene editing. Two lines of mutant mice with the frameshift mutations (1-bp or 2-bp deletion) have been also established. In homozygotes of these mutant mice, intramembranous bone formation was not observed, as previously reported in Runx2 null mice. In 4-month old heterozygotes, supernumerary teeth in some CCD patients have not been observed in mutant mice with R232Q, but the length of the tooth root in the heterozygotes was shorter than that of wild type.

Free Research Field

分子生物学