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Exo1tm3.1Wed
Targeted Allele Detail
Summary
Symbol: Exo1tm3.1Wed
Name: exonuclease 1; targeted mutation 3.1, Winfried Edelmann
MGI ID: MGI:5523450
Synonyms: Exo1EK
Gene: Exo1  Location: Chr1:175708334-175738962 bp, + strand  Genetic Position: Chr1, 81.9 cM
Alliance: Exo1tm3.1Wed page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:198719
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsGlutamic acid codon 109 (GAG) was changed to lysine (AAG) (p.E109K). This mutation corresponds to one found in patients with hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Cre-mediated recombination removed the loxP site flanked neomycin resistance cassette that was inserted into intron 5. Western blot analysis confirmed the presence of protein expression in the testis. The product of this allele lacks exonuclease activity. (J:198719)
Gene targeting strategy for the Exo1tm3.1Wed allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(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 Exo1 Mutation:  46 strains or lines available
References
Original:  J:198719 Schaetzlein S, et al., Mammalian Exo1 encodes both structural and catalytic functions that play distinct roles in essential biological processes. Proc Natl Acad Sci U S A. 2013 Jul 2;110(27):E2470-9
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
11/12/2024
MGI 6.24
The Jackson Laboratory