将包含人类TATA盒结合蛋白(TBP)的13个polyQ重复扩张的转基因构建,通过小鼠Prion蛋白驱动器,注入到FVB/N雌鼠的受精卵中。建立了TBP-13Q的转基因创始系。 Western blot分析无法分辨野生型和突变型TBP蛋白。4个月大的大脑中未检测到免疫反应性的TBP蛋白。(来源:J:130775)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
FVB/N
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插入
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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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PMID
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Year
IF
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