Gene expression analyses of Adar1 mutant mice

ADAR1 is a responsible enzyme for adenosine-to-inosine RNA editing. Mutations in ADAR1 gene are linked to Aicardi-Goutières syndrome (AGS) that is characterized by encepalophathy with overproduction of type 1 inteferon. We previously reported Adar1 mutant mice harboring the W197A point mutation (Immunity, 2021) and the AGS-associated K948N point mutation (J Immunol, 2021). Both mutant liens manifested encephalopathy with overproduction of type 1 inteferon. In addition, hematopoiesis is impaired in Adar1 (W197A) mice. To elucidate the underlying mechanisms, we mated these Adar1 mutant mice with Ifih1 (MDA5) KO, Ifnar KO, ZBP1 KO, and Eif2ak2 (PKR) KO mice and analyzed gene expression in multiple organs by bulk RNA-seq, single cell RNA-seq, and spacial transcriptome analyses.