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The transgene construct consists of a 370 kbp YAC (Y37FA12) that includes the entire human FXN gene with nine GAA repeats [(GAA)>9<] at the mutation locus within intron 1 of FXN. The GAA repeat expansion was not further modified. Founder line Y47 was established and contains a single copy integration of the transgene. (J:213628)
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
