Adar^em3Kawy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adar^em3Kawy
• Name: adenosine deaminase, RNA-specific; endonuclease-mediated mutation 3, Yukio Kawahara
• MGI ID: MGI:7411252
• Synonyms: Adar1^K948N
• Gene: Adar Location: Chr3:89622329-89660753 bp, + strand Genetic Position: Chr3, 39.19 cM, cytoband F2
• Alliance: Adar^em3Kawy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a single point mutation resulting in a lysine to asparagine substitution at amino acid 948 (p.K948N). Two silent mutations were also generated. This corresponds to an Aicardi-Goutieres syndrome-causative p.K999N mutation located in a deaminase domain. (J:317182)

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:317182 Inoue M, et al., An Aicardi-Goutieres Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice. J Immunol. 2021 Nov 12;207(12):3016-3027
• All: 2 reference(s)