Adar^em1Dmsc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adar^em1Dmsc
• Name: adenosine deaminase, RNA-specific; endonuclease-mediated mutation 1, Daniella M Schwartz
• MGI ID: MGI:8346375
• Synonyms: Adar^G1007
• Gene: Adar Location: Chr3:89622329-89660753 bp, + strand Genetic Position: Chr3, 39.19 cM, cytoband F2
• Alliance: Adar^em1Dmsc page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glycine codon 567 (ATG) was changed to arginine (ATA) (p.G567R) using an sgRNA (targeting GCAAGGCAAGCTTCGCACCA) and an ssODN template with CRISPR/Cas9 technology. This mutation is equivalent to the human p.G1007R mutation associated with Aicardi-Goutieres syndrome. The G to A alteration is at the splicing donor site of exon 11 and alters the RNA splicing such that five differentially spliced transcripts are identified in homozygotes. However, Western blot analysis only detects the full-length p150 isoform protein at reduced levels. (J:379589)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Adar Mutation: 83 strains or lines available

References

• Original: J:379589 Guo X, et al., Heterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutieres syndrome. iScience. 2026 Feb 20;29(2):114758
• All: 1 reference(s)