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Twnktm1.2Lrsn
Targeted Allele Detail
Summary
Symbol: Twnktm1.2Lrsn
Name: twinkle mtDNA helicase; targeted mutation 1.2, Nils-Goran Larsson
MGI ID: MGI:5496876
Synonyms: Twinkle-
Gene: Twnk  Location: Chr19:44994102-45001201 bp, + strand  Genetic Position: Chr19, 38.19 cM
Alliance: Twnktm1.2Lrsn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:194965
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
    Floxed mice were mated to ubiquitously expressing cre mice (Actb-cre) to delete exons II-IV. (J:194965)
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 Twnk Mutation:  27 strains or lines available
Notes
ES cells = C57BL/6-derived
References
Original:  J:194965 Milenkovic D, et al., TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication. Hum Mol Genet. 2013 May 15;22(10):1983-93
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
03/12/2024
MGI 6.23
The Jackson Laboratory