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The targeting construct contains from 5' to 3': a loxP-flanked transcriptional STOP cassette (neomycin cassette in reverse orientation) driven by the PGK promoter followed by human DUX4 exon 1 fused to a V5 epitope sequence, exon 2, exon 3, and a BGH polyA. Exon 3 derives from the chrom 4q pLAM region and contains the non-canonical 5'-ATTAAA-3' poly A signal utilized by the last DUX4 copy in facioscapulohumeral muscular dystrophy (FSHD) patients. The vector is inserted in the first intron of Gt(ROSA)26Sor locus. (J:268959)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
