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Targeted Allele Detail
Symbol: Tor1atm1Yql
Name: torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li
MGI ID: MGI:3613019
Synonyms: Dyt1 deltaGAG
Gene: Tor1a  Location: Chr2:30960627-30967933 bp, - strand  Genetic Position: Chr2, 21.77 cM
Germline Transmission:  Earliest citation of germline transmission: J:104513
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
Mutation detailsA targeting vector was designed to insert a mutant exon 5 containing a deletion of trinucleotide GAA corresponding to the human codons 302/303. The cassette also carried a PGK-neo-pA-STOP, with a false translation signal, splice donor site and another polyA tail inserted into intron 4. Crossing with mice expressing cre in the germline removed the PGK-neo-STOP cassette. Heterozygous mice expressed transcript from the mutant allele. (J:104513)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Tor1a Mutation:  8 strains or lines available
Original:  J:104513 Dang MT, et al., Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol. 2005 Dec;196(2):452-63
All:  10 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory