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Polgtm1.1Lrsn
Targeted Allele Detail
Summary
Symbol: Polgtm1.1Lrsn
Name: polymerase (DNA directed), gamma; targeted mutation 1.1, Nils-Goran Larsson
MGI ID: MGI:3046825
Synonyms: mtDNA mutator, PolD257A, PolgAmut
Gene: Polg  Location: Chr7:79095979-79116110 bp, - strand  Genetic Position: Chr7, 45.04 cM, cytoband E
Alliance: Polgtm1.1Lrsn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:91077
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation details: Polgtm1Lrsn mice were mated with ubiquitously expressing Flp-mice to excise the Frt-flanked neo, leaving exon 3 flanked with loxP sites and an aspartic acid to alanine codon change at 257, in the second exonuclease domain. Biochemical assays revealed a profound reduction in exonuclease activity in these mutants. (J:91077)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 12 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Polg Mutation:  58 strains or lines available
References
Original:  J:91077 Trifunovic A, et al., Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature. 2004 May 27;429(6990):417-23
All:  36 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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Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory