Tor1a^tm5Yql
Targeted Allele Detail

Summary

• Symbol: Tor1a^tm5Yql
• 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: Tor1a^tm5Yql 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)
• Mutation: Insertion
• Mutation details: The same targeting vector used for Tor1a^tm1Yql 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: 26 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)