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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 YG22 was generated, showing a reduced transmission rate of 21%, indicating germ-line mosaicism of the transgene, compared to 52% transmission to offspring for founder line YG8. One copy of the FXN gene was detected, and contains a single 190 GAA repeat sequence. (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
