Thap1^tm1.1Meeh

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Species

Mus musculus

Symbol

Thap1^tm1.1Meeh

Category

allele

Allele of gene

Thap1

Transgenic Constructs

None

Synonyms

• Thap1^C54Y

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations