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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
Igh-7
tm1Lam
Alias:
KVKdelta-tail
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基础信息
表型特征
文献报道
在第六外显子的第三密码子位置引入了一个终止密码子和一个移位突变,目的是改变编码细胞质尾部的基因部分。在第五外显子上游和突变后的第六外显子下游插入了LoxP位点。随后插入了Neo/Tk选择性载体,再后面跟着第三个LoxP位点。Cre重组酶的暂时表达去除了选择性载体,但保留了突变的第六外显子。通过Southern blotting确认了靶向和重组的正确性。这个等位基因预计会产生一个仅含3个氨基酸的细胞质尾部,与mIgM和mIgD的细胞质区相同(J:146733)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
3838714
BALB/c
Targeted
Insertion, Nucleotide substitutions
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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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