Japan Society for the Promotion of Science:Grants-in-Aid for Scientific Research Grant-in-Aid for Early-Career Scientists
Date (from‐to) : 2018/04 -2021/03
Author : Yutaka Negishi
We generated genome-edited model that carried a truncating variant in Magel2 generated using the CRISPR/Cas9 system. The imprinted expression and spatial distribution of truncating Magel2 transcripts in the brain were maintained. Although neonatal mice were lighter than wildtype littermates, males and females weighed the same as their wildtype littermates by eight and four weeks of age, respectively. However, they did not show arthrogryposis and severe developmental delay. Collectively, the genome-edited mouse model maintains genomic imprinting and distribution of truncated Magel2 transcripts in the brain, but only partially recapitulates SYS phenotypes.