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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
Mybpc3
tm1Jse
Alias:
MyBP-C
MUT
MyBP-C
t
MyBP-C(Neo)
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基础信息
表型特征
文献报道
这个基因通过同源重组在第30外显子插入了一个含 floxed PGK-neo 突变元件,导致其发生中断。突变等位基因产生的转录本会跳过第30外显子,编码一个含有32个新氨基酸、比野生型肽短174个氨基酸的肽。(来源:J:58295)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2654419
Not Specified
Targeted
插入
--
1
12
28
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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