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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
Gata1
tm1.1Itl
Alias:
GATA-1
2RA
Gata1-KI
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基础信息
表型特征
文献报道
在exon 4的第243位( CGG)和第247位( CGA)位置,arginine被替换为alanine( GCA),分别表现为p.R243A和p.R247A。同时,插入了内含子4一个由FRT标记的诺卡因抗性基因座。随后通过flp介导的重组移除了这个neo cassette。这些突变的arginine残基对于与Hdac1蛋白的结合至关重要,但并不影响其他结合特性。(来源:J:310648)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7257809
129S/SvEv x C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
14
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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