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| Nomenclature |
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Symbol:
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Tor1atm1Yql
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Name:
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torsin family 1, member A (torsin A);
targeted mutation 1, Yuqing Li
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MGI ID: |
MGI:3613019 |
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Synonyms: |
Dyt1 deltaGAG |
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Gene:
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Tor1a
Location:
Chr2:30960627-30967933 bp, - strand
Genetic Position: Chr2,
21.77 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:104513
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tor1a Mutation:
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5 strains or lines available |
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| References |
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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
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All: |
8 reference(s)
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Analysis Tools
