Adar^em1Qwan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adar^em1Qwan
• Name: adenosine deaminase, RNA-specific; endonuclease-mediated mutation 1, Qingde Wang
• MGI ID: MGI:7432329
• Synonyms: Adar D1113H
• Gene: Adar Location: Chr3:89622329-89660753 bp, + strand Genetic Position: Chr3, 39.19 cM, cytoband F2
• Alliance: Adar^em1Qwan page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting modified the coding sequence to induce the amino acid substitution of glutamic acid with G > C nucleotide replacement (equivalent to c.3337 g > c in patients) which codes the Adar D963H mutation (the Adar D1113H mutation in humans). (J:332992)

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:332992 Guo X, et al., An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain. J Neuroinflammation. 2022 Dec 1;19(1):285
• All: 1 reference(s)