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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
Trp53
tm3.1Wgu
Alias:
Trp53
KQ
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基础信息
表型特征
文献报道
第11外显子的7个赖氨酸密码子都突变成了谷氨酰胺(p.K367Q、p.K369Q、p.K370Q、p.K378Q、p.K379Q、p.K383Q、p.K384Q),并且在第10内含子插入了一个含诺卡因抗性基因座的loxP序列。通过Cre介导的重组,去除了这个neo cassette。突变蛋白模拟了该蛋白质的乙酰化形式。(来源:J:238814)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6357928
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
65
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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