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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
Umod
tm1Xrw
Alias:
THP
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基础信息
表型特征
文献报道
将1-4外显子和650bp的近端启动子区域替换为诺卡因抗性基因座。RT-PCR和Northern blot结果显示突变小鼠肾脏中没有转录本。免疫组化和Western blot结果显示,突变小鼠中未检测到蛋白质。(来源:J:95431)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3526897
129S6/SvEvTac
Targeted
插入,基因内删除
--
1
1
15
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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