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Adarem2Qwan
Endonuclease-mediated Allele Detail
Summary
Symbol: Adarem2Qwan
Name: adenosine deaminase, RNA-specific; endonuclease-mediated mutation 2, Qingde Wang
MGI ID: MGI:7484719
Synonyms: ADAR1 P195A, AdarP193A
Gene: Adar  Location: Chr3:89622329-89660753 bp, + strand  Genetic Position: Chr3, 39.19 cM, cytoband F2
Alliance: Adarem2Qwan page
Mutation
origin
Strain of Origin:  Not Applicable
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsProline codon 195 was changed to alanine (c.583C>G p.P195A) using an sgRNA (targeting GCAAGGCAAGCTTCGCACCA) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.P193A mutation associated with Aicardi-Goutieres syndrome (AGS). (J:325221)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  72 strains or lines available
References
Original:  J:325221 Guo X, et al., Aicardi-Goutieres syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain. J Neuroinflammation. 2021 Jul 31;18(1):169
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory