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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
Zfpm1
tm1.1Esv
Alias:
FOG-1
R3K5A
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基础信息
表型特征
文献报道
通过同源重组,插入了一个包含两个点突变的FOG抑制区(N3位替换为Alanine,K5位替换为Alanine)基因,该突变破坏了该蛋白与核小体重构和组蛋白去乙酰化酶复合体亚基的相互作用。同时,内含子1中包含了一个可删除的neo cassette,后经Cre介导的重组被去除了。在来自纯合小鼠骨髓细胞的提取物中,Western blot分析证实了突变蛋白的表达水平与野生型蛋白相当。(来源:J:156475)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4421436
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
--
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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