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

Symbol:	Tor1atm3.1Wtd
Name:	torsin family 1, member A (torsin A); targeted mutation 3.1, William T Dauer
MGI ID:	MGI:5605367
Synonyms:	Tor1aflox
Gene:	Tor1a  Location: Chr2:30850639-30857945 bp, - strand  Genetic Position: Chr2, 21.77 cM
Alliance:	Tor1atm3.1Wtd page

Germline Transmission:	Earliest citation of germline transmission: J:213785
Parent Cell Line:	D2 (ES Cell)
Strain of Origin:	(129S6/SvEvTac x C57BL/6J)F1

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 3 followed by a frt-flanked neomycin resistance (neo) cassette, and a second loxP site downstream of exon 5 of the gene. Flpe-mediated recombination removed the FRT-flanked neomycin cassette leaving exons 3-5 floxed. (J:213785)

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

In Structures Affected by this Mutation:

7 anatomical structure(s)

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:213785 Liang CC, et al., TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. J Clin Invest. 2014 Jul 1;124(7):3080-92
All:	12 reference(s)