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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
Chn1
Gt714Lex
Alias:
alpha2
gt
alpha-2
-
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基础信息
表型特征
文献报道
在基因座中间,插入了一个β-geo基因捕获载体,它位于α-1 N端截短等量体的启动子区域。 Western blot结果显示脊髓中无蛋白表达,而纯合子大脑提取物中蛋白质产量有所降低。(来源:J:128698)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3783264
129S5/SvEvBrd
Gene trapped
基因捕获载体的插入
--
1
3
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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