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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
Cfh
tm2Song
Alias:
fH
m
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基础信息
表型特征
文献报道
在短一致性重复域19(SCR19)的起始位置插入了两个终止密码子,导致exon 19中的TCAACA变成了TAATGA。上游插入了FRT座(诺卡因选择座)、loxP位点以及第二个FRT座。纯合小鼠在肝脏中显示出较低的Cfh转录RNA水平,且血浆中检测到的截短蛋白量有限。(来源:J:264171)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7562052
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
10
3
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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