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Tor1atm5Yql
Targeted Allele Detail
Summary
Symbol: Tor1atm5Yql
Name: torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li
MGI ID: MGI:6763162
Synonyms: Dyt1 KD, Dyt1 STOP
Gene: Tor1a  Location: Chr2:30850639-30857945 bp, - strand  Genetic Position: Chr2, 21.77 cM
Alliance: Tor1atm5Yql page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:131080
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Hypomorph, Knockdown)
Mutation:    Insertion
 
Mutation detailsThe same targeting vector used for Tor1atm1Yql was used to generate this allele. It was designed to insert a mutant exon 5 containing a deletion of trinucleotide GAA corresponding to the human codon 302. 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. However, a highly efficient recombination site within intron 4 downstream of the PGKneoSTOP cassette and before the exon 5, resulted in ES cells with recombination having only PGKneoSTOP inserted into the intron4. The allele expressed a reduced level of torsinA protein encoded by the Tor1a gene. (J:104513, J:131080)
Find Mice (IMSR)
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:  22 strains or lines available
References
Original:  J:131080 Dang MT, et al., Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci Res. 2006 Dec;56(4):470-4
All:  2 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
03/18/2025
MGI 6.24
The Jackson Laboratory