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The transgene consists of a mouse Pcp2 promoter driving the expression of a human ATXN1 (SCA1) cDNA with 82 CAG repeats and a valine to alanine change at amino acid 591 (V591A) and serine to aspartic acid at posistion 602 (S602D). This is the high expressing line. The Pcp2 promoter targets transgene expression to Purkinje cells. (J:261279)
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
