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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
