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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
Syne1
tm1.1Chen
Alias:
Nesprin 1
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基础信息
表型特征
文献报道
通过Cre介导的重组,去除了倒数第十六个外显子和neo cassette,蛋白表达缺失通过 Western blot 分析和肌肉的免疫组化得到了确认(来源:J:155342)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4414824
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
插入,基因内删除
--
1
6
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
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