Tor1a^tm1Wtd
Targeted Allele Detail

Summary

• Symbol: Tor1a^tm1Wtd
• Name: torsin family 1, member A (torsin A); targeted mutation 1, William T Dauer
• MGI ID: MGI:3623421
• Synonyms: Tor1a^-
• Gene: Tor1a Location: Chr2:30850639-30857945 bp, - strand Genetic Position: Chr2, 21.77 cM
• Alliance: Tor1a^tm1Wtd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:107596
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An IRES-lacZ cassette replaced exons 2-4, which contain sequence encoding the conserved AAA+ ATP binding and hydrolysis domains. A neomycin resistance gene included in the vector was subsequently removed via cre mediated recombination. (J:107596)

Disease models

Expression

In Mice Carrying this Mutation:	30 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tor1a Mutation: 22 strains or lines available

References

• Original: J:107596 Goodchild RE, et al., Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron. 2005 Dec 22;48(6):923-32
• All: 12 reference(s)