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Tk2tm1Mihi
Targeted Allele Detail
Nomenclature
Symbol: Tk2tm1Mihi
Name: thymidine kinase 2, mitochondrial; targeted mutation 1, Michio Hirano
MGI ID: MGI:3808750
Synonyms: Tk2mut
Gene: Tk2  Location: Chr8:104226685-104248558 bp, - strand  Genetic Position: Chr8, 53.04 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:139195
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe coding sequence of exon 5 was modified such that the amino acid asparagine was substituted for histidine at position 126 (H126N). A floxed neo cassette used for selection purposes was removed by cre mediated recombination. (J:139195)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 Tk2 Mutation:  3 strains or lines available
References
Original:  J:139195 Akman HO, et al., Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet. 2008 Aug 15;17(16):2433-40
All:  5 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
10/08/2019
MGI 6.14
The Jackson Laboratory