The production and analyses of model mice having new genetic abnormality responsible for adrenal hypoplasia

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K08260
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Keio University
• Principal Investigator: AMANO Naoko 慶應義塾大学, 医学部(信濃町), 共同研究員 (70348689)
• Co-Investigator(Kenkyū-buntansha): 高田 修治 国立研究開発法人国立成育医療研究センター, システム発生・再生医学研究部, 部長 (20382856)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 副腎低形成症

Outline of Final Research Achievements

Exon 2 deletion of gene A is a new candidate genetic abnormality causing adrenal hypoplasia. We produced the mice having geneA exon 2 heterozygous deletion by genome editing. However, the mice did not have adrenal hypoplasia. We produced homozygous mice by mating the heterozygous mice. However, the homozygous mice did not have adrenal hypoplasia either.

Free Research Field

小児内分泌

Academic Significance and Societal Importance of the Research Achievements

本研究により遺伝子Aエクソン2のホモ欠失マウスで副腎低形成を認めなかった。しかし、副腎の形態異常やX-zoneの分化異常が疑う所見を認めた。以上より、遺伝子Aのマウス副腎とヒト副腎では種差があると考えられた。