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To date, none of the mouse models carrying an AGS-causative mutation has mimicked such brain pathology. Here, we established a mutant mouse model carrying a K948N point mutation, corresponding to an AGS-causative K999N mutation, located in a deaminase domain of the Adar1 gene that encodes an RNA editing enzyme. Adar1K948N\/K948N mice displayed postnatal growth retardation. Hyperplasia of splenic white pulps with germinal centers and hepatic focal inflammation were observed from 2 mo of age. Inflammation developed in the lungs and heart with lymphocyte infiltration in an age-dependent manner. Furthermore, white matter abnormalities with astrocytosis and microgliosis were detected at 1 y of age. The increased expression of IFN-stimulated genes was detected in multiple organs, including the brain, from birth. In addition, single-nucleus RNA sequencing revealed that this elevated expression of IFN-stimulated genes was commonly observed in all neuronal subtypes, including neurons, oligodendrocytes, and astrocytes. We further showed that a K948N point mutation reduced the RNA editing activity of ADAR1 in vivo. The pathological abnormalities found in Adar1K948N\/K948N mice were ameliorated by either the concurrent deletion of MDA5, a cytosolic sensor of unedited transcripts, or the sole expression of active ADAR1 p150, an isoform of ADAR1. Collectively, such data suggest that although the degree is mild, Adar1K948N\/K948N mice mimic multiple AGS phenotypes, including encephalopathy, which is caused by reduced RNA editing activity of the ADAR1 p150 isoform.<\/jats:p>","DOI":"10.4049\/jimmunol.2100526","type":"journal-article","created":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T14:30:15Z","timestamp":1636727415000},"page":"3016-3027","source":"Crossref","is-referenced-by-count":25,"title":["An Aicardi-Gouti\u00e8res Syndrome\u2013Causative Point Mutation in <i>Adar1<\/i> Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice"],"prefix":"10.1093","volume":"207","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1142-1516","authenticated-orcid":false,"given":"Maal","family":"Inoue","sequence":"first","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8076-9087","authenticated-orcid":false,"given":"Taisuke","family":"Nakahama","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuichiro","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9118-9413","authenticated-orcid":false,"given":"Toshiharu","family":"Shibuya","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0044-240X","authenticated-orcid":false,"given":"Jung In","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5934-6271","authenticated-orcid":false,"given":"Hiroyuki","family":"Todo","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfang","family":"Xing","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1526-2754","authenticated-orcid":false,"given":"Yuki","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]},{"name":"Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichi","family":"Morii","sequence":"additional","affiliation":[{"name":"Department of Pathology, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2629-9405","authenticated-orcid":false,"given":"Yukio","family":"Kawahara","sequence":"additional","affiliation":[{"name":"Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]},{"name":"Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University , Osaka ,","place":["Japan"]},{"name":"Genome Editing Research and Development Center, Graduate School of Medicine, Osaka University , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,12,15]]},"reference":[{"key":"2025022610324294500_r1","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.a.36887","article-title":"Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1","volume":"167","author":"Crow","year":"2015","journal-title":"Am. J. Med. Genet. A."},{"key":"2025022610324294500_r2","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/ng.2414","article-title":"Mutations in ADAR1 cause Aicardi-Gouti\u00e8res syndrome associated with a type I interferon signature","volume":"44","author":"Rice","year":"2012","journal-title":"Nat. Genet."},{"key":"2025022610324294500_r3","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s12969-021-00497-2","article-title":"Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect","volume":"19","author":"He","year":"2021","journal-title":"Pediatr. Rheumatol. Online J."},{"key":"2025022610324294500_r4","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.a.36360","article-title":"Bilateral striatal necrosis in two subjects with Aicardi-Gouti\u00e8res syndrome due to mutations in ADAR1 (AGS6)","volume":"164","author":"La Piana","year":"2014","journal-title":"Am. J. Med. Genet. A."},{"key":"2025022610324294500_r5","doi-asserted-by":"crossref","first-page":"631329","DOI":"10.3389\/fped.2021.631329","article-title":"Type I interferonopathies in children: an overview","volume":"9","author":"d\u2019Angelo","year":"2021","journal-title":"Front Pediatr."},{"key":"2025022610324294500_r6","doi-asserted-by":"crossref","first-page":"985","DOI":"10.3389\/fimmu.2020.00985","article-title":"Interstitial lung disease and psoriasis in a child with Aicardi-Gouti\u00e8res syndrome","volume":"11","author":"Zheng","year":"2020","journal-title":"Front. Immunol."},{"key":"2025022610324294500_r7","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nri3850","article-title":"Aicardi-Gouti\u00e8res syndrome and the type I interferonopathies","volume":"15","author":"Crow","year":"2015","journal-title":"Nat. Rev. Immunol."},{"key":"2025022610324294500_r8","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1073\/pnas.1423804112","article-title":"Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease","volume":"112","author":"Grieves","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2025022610324294500_r9","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1084\/jem.20151464","article-title":"RNase H2 catalytic core Aicardi-Gouti\u00e8res syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice","volume":"213","author":"Pokatayev","year":"2016","journal-title":"J. Exp. 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Understanding the physiological functions of A-to-I RNA editing by adenosine deaminase acting on RNAs","volume":"10","author":"Heraud-Farlow","year":"2020","journal-title":"Open Biol."},{"key":"2025022610324294500_r13","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1146\/annurev-biochem-060208-105251","article-title":"Functions and regulation of RNA editing by ADAR deaminases","volume":"79","author":"Nishikura","year":"2010","journal-title":"Annu. Rev. 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Chem."},{"key":"2025022610324294500_r17","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0378-1119(00)00368-1","article-title":"Human RNA-specific adenosine deaminase (ADAR1) gene specifies transcripts that initiate from a constitutively active alternative promoter","volume":"258","author":"Kawakubo","year":"2000","journal-title":"Gene"},{"key":"2025022610324294500_r18","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1074\/jbc.M311347200","article-title":"Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme ADAR1","volume":"279","author":"Hartner","year":"2004","journal-title":"J. Biol. Chem."},{"key":"2025022610324294500_r19","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/ni.1680","article-title":"ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling. [Published erratum appears in 2009 Nat. 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