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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
Il6st
tm1Ern
Alias:
gp130
757F
gp130
F
gp130
Y757F
gp130Y757F
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基础信息
表型特征
文献报道
Ptpn11结合区域,由第17号外显子编码,通过同源重组,通过在757位(酪氨酸到苯丙氨酸)和760位(缬氨酸到Alanine)的错义突变构建的构造打乱了。此外,伊里萨克斯-neo插件被插入到17号外显子的3'端。在肝组织的生化实验中,结果显示了在突变小鼠中,Il6st介导的信号通路被干扰。(来源:J:79073)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2388478
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
7
62
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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