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Allele : Tor1a<tm5Yql> torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li

Primary Identifier  MGI:6763162 Allele Type  Targeted
Attribute String  Hypomorph, Knockdown Gene  Tor1a
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • Dyt1 KD,
  • Dyt1 STOP,
  • Dyt1 KD,
  • Dyt1 STOP
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories