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Tor1atm2Wtd
Targeted Allele Detail
Nomenclature
Symbol: Tor1atm2Wtd
Name: torsin family 1, member A (torsin A); targeted mutation 2, William T Dauer
MGI ID: MGI:3623422
Synonyms: DYT1(deltaE), DYT1 KI, Tor1adeltaE, Tor1adeltagag
Gene: Tor1a  Location: Chr2:30960627-30967933 bp, - strand  Genetic Position: Chr2, 21.77 cM
Abnormal white matter microstructure in Tor1atm2Wtd/Tor1a+ mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:107596
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsA targeting vector was designed to create a pathogenic glutamic acid deletion in exon 5. A neomycin resistance gene included in the vector was subsequently removed via cre mediated recombination. (J:107596)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 14 assay results
In Structures Affected by this Mutation: 9 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:107596 Goodchild RE, et al., Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron. 2005 Dec 22;48(6):923-32
All:  19 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