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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
F8
tm2Kaz
Alias:
MFVIII-17
E17
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基础信息
表型特征
文献报道
将抗氨苄青霉素抗性基因 cassette 插入第17外显子,并在该外显子3'端19bp处引入了一个单核苷酸变异。两种不同的活性测定结果显示,突变基因产生的蛋白质活性水平仅为野生型的1%以下。(来源:J:24941)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2179968
129S4/SvJae
Targeted
Insertion, Single point
--
1
4
19
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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