这个转基因包含了从鼠的Pcp2启动子驱动的人类ATXN1(SCA1)cDNA,它有82个CAA重复,并在第776位氨基酸由丝氨酸替换为天冬氨酸(S776D)。这是高表达的转基因。Pcp2启动子将转录本定向到浦肯野细胞。转录物表达通过检测脑脊液的 Western blot 实验得到了确认。(来源:J:166951)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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1
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1

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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Phenotypes

References Literature

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