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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
基因编辑小鼠
Htt
tm1Xen
Alias:
Htt
tm1(HTT*Q45)Xen
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基础信息
表型特征
文献报道
这个构建包含了人类亨廷顿基因的第1外显子,重复了大约9个CAA CAG CAA CAG CAA序列(相当于45个谷氨酰胺扩展),目标是将这个人类的外显子1替换进入小鼠的亨廷顿基因中。(来源:J:147112)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5426945
Not Specified
Targeted
插入
--
1
4
--
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
Title
PMID
Journal
Year
IF
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