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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
Scnn1b
tm1.1Ipt
Alias:
beta566Stop
Liddle
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基础信息
表型特征
文献报道
通过在566位点插入工程性终止密码子后,去除了loxP位点标记的诺卡因抗性 cassette,科学家们建立了一种Liddle综合症的小鼠模型,这通过Scnn1btm1Ipt个体与cre表达的TgN(EIIa-cre)C5379Lmgd线的杂交实现。对小鼠结肠和肾脏的Northern blot分析显示,突变个体中该基因的表达显著降低。(来源:J:59840)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2448620
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Nucleotide substitutions
--
1
6
11
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
No Data Found!
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