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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
E2f1
tm1.1Dgj
Alias:
E2f1
S29A
E2f1
tm1Dgj
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基础信息
表型特征
文献报道
在exon 1的29号密码子位置插入了丝氨酸到Alanine的突变(S29A),通过同源重组在 intron 1插入了FRT引导的neo cassette。随后,Flp介导的重组移除了neo cassette。对exon 1的测序确认了S29A突变的存在,且未发现其他变异。(来源:J:212453)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5637520
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
--
2
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
No Data Found!
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