The phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant.

ABSTRACT: ADAR1 -mediated A-to-I RNA editing is a self-/non-self-discrimination mechanism for cellular double-stranded RNAs. ADAR mutations are one cause of Aicardi-Goutières Syndrome, an inherited paediatric encephalopathy, classed as a "Type I interferonopathy." The most common ADAR1 mutation is a proline 193 alanine (p.P193A) mutation, mapping to the ADAR1p150 isoform-specific Zα domain. Here, we report the development of an independent murine P195A knock-in mouse, homologous to human P193A. The Adar1^P195A/P195A mice are largely normal and the mutation is well tolerated. When the P195A mutation is compounded with an Adar1 null allele (Adar1^P195A/- ), approximately half the animals are runted with a shortened lifespan while the remaining Adar1^P195A/- animals are no

SUBMITTER: Liang Z 

PROVIDER: S-EPMC10157378 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature