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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
Adam17
em1Bbl
Alias:
Adam17deltacyto
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基础信息
表型特征
文献报道
CRISPR/cas9导向的基因组编辑用于在第18外显子插入血凝素(HA)标签和终止密码子,位于细胞质区域。 Western blot结果显示,这种变异导致大脑、心脏、肺、肝脏和脾脏中蛋白质水平降低。(来源:J:306272)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6719382
B6(Cg)-Tyrc-2J/J
Endonuclease-mediated
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1
2
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
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