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This transgene carries a 13.5 kb EcoRI fragment derived from a lambda-42 phage clone encompassing the partially deleted D4Z4 locus of a patient with facioscapulohumeral dystrophy. This allele contains the DUX4 pA signal, but lacks the more downstream exons 6 and 7 and contains 2.5 copies of the D4Z4 unit and flanking sequences. 4 copies of the fragment were integrated on chromosome 17. DUX4 mRNA was detected in germline tissues and variable expression is seen in analyzed somatic tissues including skeletal muscle and in the cerebellum. (J:195481)
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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References Literature
Title
PMID
Journal
Year
IF
