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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
Pms2
tm1.1Wed
Alias:
Pms2
EK
Pms2
E702K
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基础信息
表型特征
文献报道
在E702K基因的第12号外显子中引入了一个突变,破坏了DQHA(X)2E(X)4E的金属结合motif。同时,引入了内含子12的floxed hygro/neo选择性载体。随后,通过Cre介导的重组移除了这个选择性载体。结果显示,MEFs和初级B细胞中突变等位基因的表达水平与野生型相似。在纯合小鼠的脾、脑和睾丸中, Western blot分析显示蛋白质水平大约减少了25%。(来源:J:162378)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4819008
(129S6/SvEvTac x C57BL/6NCrl)F1
Targeted
Insertion, Nucleotide substitutions
--
1
14
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
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