Tor1a^tm1Yql
Targeted Allele Detail

Summary

• Symbol: Tor1a^tm1Yql
• Name: torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li
• MGI ID: MGI:3613019
• Synonyms: Dyt1 deltaGAG, Dyt1 KI
• Gene: Tor1a Location: Chr2:30850639-30857945 bp, - strand Genetic Position: Chr2, 21.77 cM
• Alliance: Tor1a^tm1Yql page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104513
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting vector 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. Crossing with mice expressing cre in the germline removed the PGK-neo-STOP cassette. Heterozygous mice expressed transcript from the mutant allele. (J:104513)

Disease models

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: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
• All: 17 reference(s)