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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
U2af1
tm1.1Hev
Alias:
MGS34F
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基础信息
表型特征
文献报道
这个靶向载体设计包含了在基因的内源性exon 1下游放置一个loxP位点,然后是exons 2-8。接下来是3个SV40晚期poly A序列的转录终止序列,接着是一个FRT标记的诺卡因选择座,以及另一个loxP位点,它们被插入在exons 2-8序列之后。在内源性exon 2上,我们构建了一个错义突变(TCT替换为TTT),导致第34位的丝氨酸(S34)被替换为苯丙氨酸(F34)。(来源:J:267082)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6202047
(129S6/SvEvTac x C57BL/6-Tg(UBC-GFP)30Scha/J)F1
Targeted
Insertion, Nucleotide substitutions
--
1
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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