人类的ATXN3c基因变异,携带有(CAG)2CAAAAGCAGCAA(CAG)129这个重复序列,编码135个谷氨酰胺,由CMV启动子调控。这条转基因线在小鼠脑干、大脑、前脑和脊髓中以接近内源性水平表达人类mRNA。通过繁殖,小鼠表现出代际CAG重复序列长度的可变性,主要表现为缩短。(来源:J:222991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
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1
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12

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
Journal
Year
IF
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