Tor1a^tm1Calak
Targeted Allele Detail

Summary

• Symbol: Tor1a^tm1Calak
• Name: torsin family 1, member A (torsin A); targeted mutation 1, Nicole Calakos
• MGI ID: MGI:6119725
• Gene: Tor1a Location: Chr2:30850639-30857945 bp, - strand Genetic Position: Chr2, 21.77 cM
• Alliance: Tor1a^tm1Calak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:247570
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Homologous recombination was used to insert a loxP site, FRT site flanked neomycin resistance gene cassette, an altered exon 3 with a T-to-A point mutation at position 616 (c.616T>A), which results in a substition of phenylalanine with isoleucine at amino acid position 206 (p.F206I), and a silent mutation to introduce a restriction site, and a second loxP site. This mutation is the equivalent of the human p.F613I mutation, a rare missense variant identified in a patient with sporadic late-onset focal dystonia. Western blot analysis of brain tissue shows reduced Torsin A protein levels. (J:247570)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:247570 Bhagat SL, et al., Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models. Neurobiol Dis. 2016 Sep;93:137-45
• All: 1 reference(s)