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The transgenic construct consists of a 370kb YAC insert that includes the entire human FXN gene with GAA triplet repeat sequences, and was injected into fertilized CBA X C57BL/6 hybrid fertilized oocytes. Founder line YG8 was established, carrying 2 tandem copies of the human FXN gene with two GAA trinucleotide repeat sequences of 82 and 190 repeats. This line displayed a transmission rate of 52% to offspring. (J:91581)
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
