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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
Braf
tm1.2Brum
Alias:
Braf
AVKA
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基础信息
表型特征
文献报道
包含一个含有375bp内含子14、小鼠Braf基因15-19号外显子、3个polyA位点和合成的polyA信号的构建,15号外显子经过突变,TVKS序列替换为AVKA,同时插入了FRT引导的neo cassette,取代了原生的15号外显子。通过Flp酶介导的重组移除了neo cassette。随后,Cre介导的重组去除了含有的floxed minigene,导致产生突变转录本。T599和S602位置的阿尔法氨基酸替换,阻断了这些位置的磷酸化(来源:J:229687)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5912240
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
38
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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