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The transgene consists of a mouse Pcp2 promoter driving the expression of a human ATXN1 (SCA1) cDNA with 30 CAG repeats and a serine to aspartic acid change at amino acid 776 (S776D). The Pcp2 promoter targets transgene expression to Purkinje cells. Transgene expression was confirmed by Western blot analysis of cerebellar extracts. (J:166951)
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
