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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
Tgfbr2
tm1.1Hcd
Alias:
Tgfbr2
G357W
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基础信息
表型特征
文献报道
在目标基因的第四外显子中,通过同位素诱变技术将第358位的甘氨酸替换为色氨酸(GGC->TGG,即第1069和1071位的鸟嘌呤替换为胸腺嘧啶和胞嘧啶替换为鸟嘌呤),实现了这一改变。同时,一个含loxP序列的诺卡因选择性载体被插入到第3内含子。随后,Cre酶介导的重组移除了含loxP的诺卡因 cassette。参考文献:(J:204960)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5543796
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
11
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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