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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
Bahcc1
em1Ggw
Alias:
Y2537A
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基础信息
表型特征
文献报道
CRISPR/Cas9技术产生了一个TAC转为GCT的变异,导致第2537位的酪氨酸替换为异亮氨酸(p.Y2537A)。这与人类中编码p.Y2533A的突变相似,该突变干扰了H3K27me3的结合(来源:J:334955)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7466260
Not Applicable
Endonuclease-mediated
核苷酸替换
--
1
--
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
No Data Found!
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