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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
Gjb6
tm2.2Kwi
Alias:
Cx30A88V
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基础信息
表型特征
文献报道
这个构建包含一个loxP位点、野生型Gjb6编码序列、一个含FRT标记的诺卡因抗性基因座、另一个loxP位点、经过点突变导致第88位 alanine 被 valine 替换的Gjb6编码序列(A88V)、一个插入终止子(IRES)、以及替换了原位点的核定位信号的lacZ基因。通过flp介导的重组移除了诺卡因抗性基因座。随后,通过Cre介导的重组去除了野生型Gjb6编码序列,保留了A88V突变的Gjb6、IRES和NLS-lacZ。PCR确认了突变基因的表达(来源:J:208123)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5607781
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Nucleotide substitutions
--
1
9
5
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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