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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
Kdm1a
tm1.1Tche
Alias:
Aof2
2lox
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基础信息
表型特征
文献报道
生命科学研究人员使用了生殖细胞中Cre介导的重组,移除了β-geo插件,保留了10到13号外显子的靶向突变。后续分子分析显示,基因定向过程中意外引入了两个腺嘌呤到鸟嘌呤的点突变,导致编码蛋白的E413G和M448V氨基酸变化。这些位置被认为与其它调节蛋白的蛋白质-蛋白质交互有关。微阵列和qRT-PCR分析显示,E18.5期同源纯合心脏的mRNA水平降低了大约50%,这表明了一个功能减弱的等位基因(来源:144527, J:270116)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3834629
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
1
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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