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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
Cacnb4
lh
Alias:
beta4
lh
lh
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基础信息
表型特征
文献报道
在内含子A/B的共识5'剪接位点处发现了一个4个碱基的插入。这个等位基因产生的转录本量较低,纯合小鼠中大约只有正常水平的20%。(来源:J:38214)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1856936
BALB/cGn
Spontaneous
插入
隐性
1
3
31
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
No Data Found!
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