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中文
从exon 1上游18个bp的多聚谷氨酰胺扩展区域，延伸到100bp进入内含子1，被替换为人源的HD序列，包含140个CAG重复。在exon 1上游1.3kb位置保留了一个floxed neo cassette。对同源突变小鼠大脑和前脑组织的 Western blot分析显示了与小鼠/人类杂交蛋白对应的蛋白质。突变蛋白和内源性蛋白的水平相似。重复次数不稳定，可能会扩张或收缩。(来源：J:85298)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
