Tor1atm5Yql
Targeted Allele Detail
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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
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Alliance: |
Tor1atm5Yql page
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Germline Transmission: |
Earliest citation of germline transmission:
J:131080
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Parent Cell Line: |
D3 (ES Cell)
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Strain of Origin: |
129S2/SvPas
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Allele Type: |
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Targeted (Hypomorph, Knockdown) |
Mutation: |
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Insertion
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Mutation details: The 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)
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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
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Carrying any Tor1a Mutation: |
22 strains or lines available
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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) |
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