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Atrtm1Twgl
Targeted Allele Detail
Summary
Symbol: Atrtm1Twgl
Name: ataxia telangiectasia and Rad3 related; targeted mutation 1, Thomas W Glover
MGI ID: MGI:3851820
Synonyms: AtrSckN
Gene: Atr  Location: Chr9:95739650-95833834 bp, + strand  Genetic Position: Chr9, 50.27 cM, cytoband E4
Alliance: Atrtm1Twgl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:150723
Parent Cell Line:  W4 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence, Hypomorph)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA transition mutation in exon 9 replaces a G with an A. This mutation replicates one identified in human patients with Seckel syndrome 1 that disrupts splicing. Reduced protein expression was confirmed by western blot analysis on spleen, kidney, and brain extracts. (J:150723)
Generation of the Atrtm1Twgl allele
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 Atr Mutation:  133 strains or lines available
References
Original:  J:150723 Ragland RL, et al., Mice hypomorphic for Atr have increased DNA damage and abnormal checkpoint response. Mamm Genome. 2009 Jun;20(6):375-85
All:  1 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
11/19/2024
MGI 6.24
The Jackson Laboratory