Tor1a^tm4.2Wtd
Targeted Allele Detail

Summary

• Symbol: Tor1a^tm4.2Wtd
• Name: torsin family 1, member A (torsin A); targeted mutation 4.2, William T Dauer
• MGI ID: MGI:5693835
• Synonyms: Tor1a^i-deltaE
• Gene: Tor1a Location: Chr2:30850639-30857945 bp, - strand Genetic Position: Chr2, 21.77 cM
• Alliance: Tor1a^tm4.2Wtd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:225567
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv x C57BL/6

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: A targeting vector was designed to insert a loxP site upstream of exon 5 followed by a FRT-flanked neomycin resistance (neo) cassette, and a second loxP site downstream of exon 5 of the gene. A mutant exon 5, with a glutamic acid residue deletion, was inserted downstream of the neo cassette. Flp-mediated recombination removed the FRT-flanked neo cassette. Cre-mediated recombination removed the wild-type exon 5 and allows expression of mutant exon 5. (J:225567)

Expression

In Structures Affected by this Mutation:

3 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 Tor1a Mutation: 22 strains or lines available

References

• Original: J:225567 Weisheit CE, et al., A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation. Hum Mol Genet. 2015 Nov 15;24(22):6459-72
• All: 1 reference(s)