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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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基因编辑小鼠
Tlr4
lps-hypo
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基础信息
表型特征
文献报道
在编码cDNA的第二外显子区域,大约8kb的插入存在。这个等位基因表达的转录本缺失了205到215号核苷酸段,共167bp,导致框移突变和一个早停密码子的产生。预测的蛋白质会部分缺失外分泌区域、跨膜域和胞质域(来源:J:103167)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3695275
B6.KB2-Cln8mnd
Spontaneous
插入
隐性
1
2
1
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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