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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
Adamts13
tm1Myta
Alias:
Adamts13
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基础信息
表型特征
文献报道
将编码蛋白质催化区域的3-6外显子替换为诺卡因抗性基因座。通过在肝脏RNA上的定量RT-PCR和在血浆中基因产物的酶活性缺失,证实了纯合子中基因表达的消除。(来源:J:125786)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3763820
129S6/SvEvTac
Targeted
插入,基因内删除
--
1
3
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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