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Tor1atm3.1Wtd
Targeted Allele Detail
Nomenclature
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: Chr2:30960627-30967933 bp, - strand  Genetic Position: Chr2, 21.77 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:213785
Parent Cell Line:  D2 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6J)F1
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 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structures
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:  15 strains or lines available
References
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:  7 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
09/10/2019
MGI 6.14
The Jackson Laboratory