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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
Plk5
em1(IMPC)J
Alias:
Plk5
em1J
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基础信息
表型特征
文献报道
这个来自项目Plk5-5922J-4194的等位基因是在Jackson实验室通过向细胞注射Cas9 RNA和指导序列CGAGCCTGGGTCGCGCAGGA产生的,导致1个碱基的缺失,位置在10号染色体正链803,566,46bp(GRCm38)。这个变异预测会导致第28位氨基酸之后的序列改变,以及接下来的3个氨基酸发生早期截断。(J:188991)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5585597
C57BL/6NJ
Endonuclease-mediated
Intragenic deletion, Single point
不确定
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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