Twnk^tm1.2Lrsn
Targeted Allele Detail

Summary

• Symbol: Twnk^tm1.2Lrsn
• 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: Twnk^tm1.2Lrsn 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)

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)