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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
Nr6a1
tm2Coo
Alias:
GCNF
lox
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基础信息
表型特征
文献报道
在ES细胞中通过Cre介导的重组后,编码DNA结合区的243bp外显子被替换为一个LoxP位点。通过Western blot分析,异源纯合突变小鼠中检测到了一个缺失DNA结合区但保留下游配体结合区的截短蛋白。(来源:J:80978)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2448158
129S7/SvEvBrd-Hprt1+
Targeted
基因内删除
--
1
--
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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