Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Tor1atm4.1Wtd
Name:	torsin family 1, member A (torsin A); targeted mutation 4.1, William T Dauer
MGI ID:	MGI:5693628
Synonyms:	Tor1aswap
Gene:	Tor1a  Location: Chr2:30850639-30857945 bp, - strand  Genetic Position: Chr2, 21.77 cM
Alliance:	Tor1atm4.1Wtd page

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

Allele Type:    Targeted (Conditional ready, No functional change) Mutation:    Insertion   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. (J:225567)

View phenotypes and curated references for all genotypes (concatenated display).

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 Tor1a Mutation:	22 strains or lines available

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:	2 reference(s)