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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
Tbx20
em1Flc
Alias:
Tbx20
EH1Mut
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基础信息
表型特征
文献报道
CRISPR/cas9介导的重组产生了一个2个氨基酸的替换(苯丙氨酸18和苏氨酸19被替换为亮氨酸和异亮氨酸),这干扰了与Transducin-like Enhancer of Split蛋白的相互作用。(来源:J:342149)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7562102
Not Specified
Endonuclease-mediated
核苷酸替换
--
1
5
1
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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