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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
Nfkb1
tm1Sley
Alias:
Nfkb1
S927A,S932A
Nfkb1
SSAA/SSAA
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基础信息
表型特征
文献报道
设计了一种靶向载体,用于在927位点替换丝氨酸为 alanine(S927A),并在933位点替换丝氨酸为 alanine(S932A)。靶向发生在Cre重组酶在单倍体精子内特异性表达的PC3 ES细胞中。载体包含一个由loxP标记的诺卡因抗性基因,位于第24外显子上游,目标是通过传递给杂交雄性小鼠后,通过Cre介导的重组被去除。这个突变预测会阻止该基因产物被IKK磷酸化,使其对信号诱导的降解产生抗性。(来源:J:142340)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3822895
129S4/SvJae-Tg(Prm-cre)70Og
Targeted
Insertion, Nucleotide substitutions
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1
3
4
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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