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Adarem1Crwy
Endonuclease-mediated Allele Detail
Summary
Symbol: Adarem1Crwy
Name: adenosine deaminase, RNA-specific; endonuclease-mediated mutation 1, Carl R Walkley
MGI ID: MGI:7514376
Synonyms: Adar1P195A
Gene: Adar  Location: Chr3:89622329-89660753 bp, + strand  Genetic Position: Chr3, 39.19 cM, cytoband F2
Alliance: Adarem1Crwy page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsProline codon 195 (CCT) in exon 2 was changed to alanine (GCT) (p.P195A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.P193A mutation associated with AicardiGoutieres Syndrome (AGS). (J:338600)
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(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:  71 strains or lines available
References
Original:  J:338600 Liang Z, et al., The phenotype of the most common human ADAR1p150 Zalpha mutation P193A in mice is partially penetrant. EMBO Rep. 2023 May 4;24(5):e55835
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
05/14/2024
MGI 6.23
The Jackson Laboratory