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The cDNA encoding a N-terminal-truncated form (lacking 286 amino-acid residues) of human ATAXIN-3 with 69 glutamine repeats is driven by a Purkinje-cell specific L7 promoter (Pcp2). The ATG start codon in exon 2 of Pcp2 was mutated to inhibit the expression of exons 1-3. In addition an N-terminal hemagglutinin epitope was added. Three lines were generated, a, b, and c. (J:136101)
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
