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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
Htr2a
em3(cre)Blr
Alias:
Htr2a-A242S-EGFP-CT-IRES-Cre
Htr2a
A242S-EGFP-Cre
Htr2a
em3(EGFP, cre)Blr
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基础信息
表型特征
文献报道
一段编码EGFP的cDNA(两端由富含丝氨酸和甘氨酸的链接器包裹)被插入到小鼠Htr2a基因的C端(在第452位,由第3外显子编码,位于GRCm38/mm10基因组的747,063,37位置),接着在终止密码子和3' UTR之间插入了IRES-Cre cassette。此外,基因的第3外显子还引入了一个人类化的A242S突变(替换为GCA为TCC),这个突变发生在小鼠Htr2a基因上。这个基因型是通过CRISPR/cas9技术在C57BL/6J胚胎中创建的。(来源:J:341620)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7543067
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
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1
5
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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