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Tor1atm4.1Wtd
Targeted Allele Detail
Nomenclature
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
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 (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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:  17 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)

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
11/30/2021
MGI 6.17
The Jackson Laboratory