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Allele : Thap1<tm1.1Meeh> THAP domain containing, apoptosis associated protein 1; targeted mutation 1.1, Michelle E Ehrlich

Primary Identifier  MGI:6107687 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Thap1
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Thap1<C54Y>,
  • Thap1<C54Y>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

9 Publication categories