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Allele : Adar<em1Qwan> adenosine deaminase, RNA-specific; endonuclease-mediated mutation 1, Qingde Wang

Primary Identifier	MGI:7432329	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Adar
Is Recombinase	false	Is Wild Type	false

molecularNote

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).

mutations:
Nucleotide substitutions

synonyms:
Adar D1113H,
Adar D1113H

earliestPublication:
Guo X, et al. (2022) 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 19(1):285

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

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