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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
Gt(ROSA)26Sor
tm3(HIF1A*)Kael
Alias:
Hif-1alpha
LSL
ROSA26-HA-HIF1dPA
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基础信息
表型特征
文献报道
将编码流感病毒血凝素A-(HA-)标签的人类低氧诱导因子1α(HIF1α)的DNA,其中包含P402A和P564A的密码子替换,以及一个位于前面的floxed neo-STOP cassette,插入到目标位点。为了表达这种突变的编码序列,需要通过Cre介导的重组去除STOP序列。这两个氨基酸位置的替换阻止了402或564位的氧依赖性脯氨酸羟化,这是VHL抑癌基因绑定所必需的(来源:J:144666)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
3832385
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
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--
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19
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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