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The coding region of the human gene containing 92 CAG repeats is under the control of the murine prion protein promoter. In addition, the aspartic acid residue at amino acid position 266 was mutated to an asparagine (D266N). This mutation prevents the cleavage of the ataxin 7 protein by caspase 7. N-terminal FLAG and C-terminal c-myc epitope tags were also added. Western blot analysis confirmed the expression of the full-length protein in the cerebellum and retina. (J:222402)
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
