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The transgene was engineered from BAC DRPLA18E that contains the human gene for ATN1 from a patient with dentatorubral-pallidoluysian atrophy (DRPLA) with a 76 CAG trinucleotide repeat within the gene. During maintenance of Tg(ATN1*)Drm21Stsu a mosaic mouse was isolated contained a combination of cells with 76 CAG repeats and 129 CAG repeats within the transgene. This mouse was bred to produce a line with the mutant human ATN1 with 129 CAG repeats. (J:144379)
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
