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Pms2tm1.1Wed
Targeted Allele Detail
Summary
Symbol: Pms2tm1.1Wed
Name: PMS1 homolog2, mismatch repair system component; targeted mutation 1.1, Winfried Edelmann
MGI ID: MGI:4819008
Synonyms: Pms2E702K, Pms2EK
Gene: Pms2  Location: Chr5:143846782-143870786 bp, + strand  Genetic Position: Chr5, 82.82 cM, cytoband G2
Alliance: Pms2tm1.1Wed page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:162378
Parent Cell Line:  G4 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6NCrl)F1
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsAn E702K mutation was introduced into exon 12 disrupting the DQHA(X)2E(X)4E metal binding motif. In addition, a floxed hygro/neo selection cassette was introduced in intron 12. Cre mediated recombination then removed the selection cassette. RT-PCR and qPCR indicted that expression levels of the mutant allele were similar to wild-type in MEFs and primary B cells. Western blot analysis indicated about a 25% reduction in protein levels in the spleens, brains, and testes of homozygous mice compared to wild-type tissues. (J:162378)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Tumor Data
List all tumor models in MMHCdb carrying Pms2tm1.1Wed
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 Pms2 Mutation:  53 strains or lines available
References
Original:  J:162378 van Oers JM, et al., PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13384-9
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