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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
转基因模型
Tg(ACTB-Wld*)5Cole
Alias:
deltaNLS
R213A,R215A
Wld
S
deltaNLS Wld
S
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基础信息
表型特征
文献报道
一种构建,包含人类β-actin启动子后面跟着一个携带有工程化C>G替换,将arginine的213和215位点替换为alanine的Wlds突变cDNA(p.Arg213Ala, p.Arg215Ala),被注入到不表达Wlds的C57BL/6 x CBA杂交胚胎的卵母细胞核中。这两种突变削弱或消除了核定位信号,导致翻译出的肽类向细胞质内的定位改变,但仍有一小部分肽会定向到细胞核。(来源:J:144846)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
5911079
(C57BL/6 x CBA)F1
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Insertion, Nucleotide substitutions
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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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