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The human BAC (RP11-33A21) was modified to include a transcriptional stop sequence (GFP followed by a floxed pgk-neo cassette and a polyA signal) before exon 1 and an expanded CTG/CAG track of 120 repeats in exon 2A of JPH3. RT-PCR confirmed that expression of the sense strand CUG repeat is silenced but expression of the antisense CAG repeat is retained. (J:174267)
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
