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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
Del(7Peg3-Usp29)1Jkim
Alias:
Peg3-DMR KO
Peg3
KO2
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基础信息
表型特征
文献报道
这个等位基因是由携带Usp29tm1Jkim突变的 mice 与表达Cre的 mice(Tg(Zp3-cre)93Knw)杂交产生的。Usp29tm1Jkim的创建过程如下:在Peg3基因上游的DMR(不同甲基化区域)内插入了一个loxP位点,紧接着是一个诺卡因抗性基因座(与目标基因的转录方向相同),然后在Peg3下游邻近的Usp29基因的内含子1中插入了另一个loxP位点,Peg3和Usp29共享一个双向启动子。通过Cre介导的重组,删除了大约4kb的Peg3-DMR区域,包括Peg3和Usp29的首两个外显子。(来源:J:259918)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
6258911
129S7/SvEvBrd-Hprt1b-m2
Targeted
Intergenic deletion, Intragenic deletion
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4
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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