Th^tm1.1Ehess
Targeted Allele Detail

Summary

• Symbol: Th^tm1.1Ehess
• Name: tyrosine hydroxylase; targeted mutation 1.1, Ellen Hess
• MGI ID: MGI:8252972
• Synonyms: DRD, Th^DRD, Th^tm1Ehess
• Gene: Th Location: Chr7:142446516-142453732 bp, - strand Genetic Position: Chr7, 88.06 cM
• Alliance: Th^tm1.1Ehess page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:373014
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A C-to-A change in glutamine codon 382 (CAG) (c.1144C>A) was engineered in exon 11 resulting in it changing to to lysine (AAG) (p.Q382K) and a loxP site flanked neomycin selection cassette was inserted into intron 11. This corresponds to the L-DOPA-responsive dystonia-causing c.1141C>A (p.Q381K) mutation in human. The neo cassette was removed via Cre-mediated recombination. (J:373014)

Expression

In Structures Affected by this Mutation:

1 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 Th Mutation: 57 strains or lines available

References

• Original: J:373014 Rose SJ, et al., A new knock-in mouse model of l-DOPA-responsive dystonia. Brain. 2015 Oct;138(Pt 10):2987-3002
• All: 3 reference(s)