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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
Scn1a
em1Odwd
Alias:
Scn1a*K1259T
Scn1a
KT
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基础信息
表型特征
文献报道
在19号外显子通过CRISPR/Cas9技术引入了一个与人类的K1270T等同的K1259T(由AAA变为ACC)的错义突变。下游位置增加了一个用于基因分型的silent EcoRV剪切位点突变,同时在K1270T突变两侧额外插入了两个无声的插入突变,以阻止修复后等位基因的Cas9活性。(来源:J:320991)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6507747
(C57BL/6 x SJL)F2
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
23
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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