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A 169 kb human BAC (RP11-798L5) containing the entire 150 kb human ATXN2 locus including regulatory regions was engineered to replace the endogenous ATXN2 exon-1 CAG22 with CAG72 repeats. Quantitative PCR analysis indicates tandem integration of 4 copies of the transgene. RT-PCR confirmed expression of transcripts throughout the central nervous system, including cerebral hemispheres, cerebellum and spinal cord, and in non-central nervous system tissues like the heart and liver. Western blot confirmed expression of protein. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:224692)
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
