Thap1^tm1.1Meeh
Targeted Allele Detail

Summary

• Symbol: Thap1^tm1.1Meeh
• Name: THAP domain containing, apoptosis associated protein 1; targeted mutation 1.1, Michelle E Ehrlich
• MGI ID: MGI:6107687
• Synonyms: Thap1^C54Y
• Gene: Thap1 Location: Chr8:26648197-26654179 bp, + strand Genetic Position: Chr8, 14.4 cM
• Alliance: Thap1^tm1.1Meeh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:226849
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site was inserted into intron 1 and an FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 2. The neo cassette was removed through subsequent flp-mediated recombination, leaving exon 2 floxed. A G>A substitution was engineered in exon 2, changing cysteine codon 54 to a tyrosine codon (p.C54Y or p.Cys54Tyr). This mutation in the DNA-binding domain mimics mutations found in human torsion dystonia 6 patients. (J:226849)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Thap1 Mutation: 33 strains or lines available

References

• Original: J:226849 Ruiz M, et al., Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. Hum Mol Genet. 2015 Dec 20;24(25):7159-70
• All: 5 reference(s)