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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
Idh1
tm1.1Avd
Alias:
Idh1tm1(R132H)Avd
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基础信息
表型特征
文献报道
在内含子2中插入了loxP位点,接着是lox511位点,反向插入了exon3的副本,其中arginine的132位点(CGA)被替换为histidine(p.R132H)。在内含子3中,再次插入了loxP和lox511位点,接着移除了位于这两个位点之间的FRT选择性元件。通过后续的Flp介导重组,这个等位基因表达的是野生型肽。只有在条件性Cre介导突变exon副本翻转,并去除野生型exon后,它才会表达修改后的肽。这个突变是在人类胶质瘤中最常见的变异类型。(来源:J:342699)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7562323
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
8
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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