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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
Malt1
tm1.1Math
Alias:
Malt1
ki
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基础信息
表型特征
文献报道
在第11外显子第168-173位,从TGTCGG转换为GCCAGA的突变引入,产生了一个C472A的替换。通过同源重组在第10内含子中插入了一个FRT引导的neo cassette。通过Flp介导的重组,neo cassette被移除。免疫印迹分析显示,突变蛋白的表达水平与野生型蛋白相似。这个C472A的改变导致了无催化活性的蛋白质,无法切割多种底物(Bcl-10、Regnase-1、RelB和CYLD)。(来源:J:216675)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5662447
C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
4
2
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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