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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
Cxcl12
tm1.1Fass
Alias:
Cxcl12
deltaex2
Cxcl12
Gagtm1
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基础信息
表型特征
文献报道
Exon 2被替换为一个,其中的核苷酸替换(AAG替换为TCG,AAA替换为TCT)导致第24和25位氨基酸由丝氨酸(Ser)变为赖氨酸(Kys,即K24S和K25S)。在Exon 4引入了一个早停密码子,阻止了最后30个氨基酸的翻译。预测产物将无法与硫酸基团结合,但不影响CXCR4依赖的细胞信号。通过Cre介导的重组,去除了位于Exon 3下游的含Neo抗性基因的克隆。(来源:J:209558)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5575859
(C57BL/6NTac x 129S6/SvEvTac)F1
Targeted
Insertion, Nucleotide substitutions
--
1
1
3
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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