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Tor1atm1Wtd
Targeted Allele Detail
Nomenclature
Symbol: Tor1atm1Wtd
Name: torsin family 1, member A (torsin A); targeted mutation 1, William T Dauer
MGI ID: MGI:3623421
Synonyms: Tor1a-
Gene: Tor1a  Location: Chr2:30960627-30967933 bp, - strand  Genetic Position: Chr2, 21.77 cM
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 (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsAn IRES-lacZ cassette replaced exons 2-4, which contain sequence encoding the conserved AAA+ ATP binding and hydrolysis domains. 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: 30 assay results
In Structures Affected by this Mutation: 5 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:  9 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