Investigation of causative genes of new microcephaly by positional cloning and establishment of congenic strains for the new microcephaly model mice

2016 Fiscal Year Final Research Report

• Project/Area Number: 26640027
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Nerve anatomy/Neuropathology
• Research Institution: Research Institute for Clinical Oncology, Saitama Cancer Center
• Principal Investigator: Shimaoka Tatsurou 埼玉県立がんセンター(臨床腫瘍研究所), 臨床腫瘍研究所, その他 (10565865)
• Co-Investigator(Renkei-kenkyūsha): MATSUSHIMA Yoshibumi 埼玉県立がんセンター, 臨床腫瘍研究所, 研究員 (10094955)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 神経発生 / 分化 / 自然発症変異 / 小頭症 / 疾患モデル

Outline of Final Research Achievements

(1) Histopathological examination revealed that the growth was extremely delayed in each part of the brain of microcephaly-affected individuals. Cerebral cortex: Layer structure is unclear. In particular, the outer granule layer and the inner granule layer disappeared. Hippocampus: At the hippocampus-dentate gyrus site, formation was extremely immature or disappeared. Cerebellum: There was no cortex on the Purkinje cell layer. Olfactory bulb: Granular cell layer was immature or disappeared.(2) The causative gene was narrowed down to chromosome 5, but the candidate gene could not be determined.(3) Congenic strains to BALB/c and C57BL/6 are underway for the establishment of microcephaly model mice. Balb/c microcephaly mice have been deposited with the RIKEN BioResource Cnter.

Free Research Field

実験動物学