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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
Kras
em1Ldow
Alias:
KRAS
G12C
Kras
LSL-G12C
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基础信息
表型特征
文献报道
CRISPR/Cas9基因编辑技术被用来改变来自Krastm4Tyj突变小鼠的胚胎干细胞。原始的KrasLSL-G12D小鼠在基因的exon 2位置有一个G12D点突变,且1号染色体内有一个包含loxP位点的STOP序列。通过设计针对KrasG12D位点的引导RNA、单链DNA模板和Cas9酶,实现了p.G12C的变异(c.34_36delGGTinsTGC),这是非小细胞肺癌中常见的变异(来源:J:299292)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6281558
129S4/SvJae
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
37
2
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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