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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
Srsf2
tm1.1Oaw
Alias:
Srsf2P95H
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基础信息
表型特征
文献报道
设计了一个靶向载体,其包含一个位于外显子1上游的loxP位点,接着是外显子3与内源性外显子2的框架融合序列,后面跟着SV40的polyadenylation序列,连接在一个FRT标记的诺卡因抗性(neo)基因座。载体还包括第二个loxP位点。重复的外显子1-2被插入在第二个loxP位点下游,内源性外显子3上游。第二个外显子1的第95位氨基酸发生了突变,从CCG变为CAC,导致氨基酸从脯氨酸变为组氨酸。通过Flp介导的重组,FRT标记的neo基因座被去除了。(来源:J:221404)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5694699
C57BL/6NTac
Targeted
Insertion, Nucleotide substitutions
--
1
5
9
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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