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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
Zfpm2
tm1.1Esv
Alias:
FOG-2
R3K5A
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基础信息
表型特征
文献报道
在exon 1插入了R3A和K5A突变,通过同源重组在intron 1插入了一个floxed neo cassette。exon 1的突变干扰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。通过Cre介导的重组移除了neo cassette。E13.5时期心肌组织的 Western blot分析显示,野生型、杂合子和纯合子突变心脏的蛋白水平相当。(来源:J:216295)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5661400
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
7
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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