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中文
在exon 20的第1147位，负责ATR活化域核心必不可少的芳香族残基的色氨酸(tryptophan，Trp)被替换成了arginine，这由一个T3439C的突变引起。同时，一个FRT引导的neo cassette被插入到了intron 19。通过Flp介导的重组，neo cassette被移除，使得intron 19中仅剩下一个FRT位点。免疫印迹分析显示，异种杂合子和野生型MEFs中表达的蛋白水平相似。(来源：J:200981)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
