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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
Cacna1a
rkr
Alias:
rkr
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基础信息
表型特征
文献报道
这种在位置4073的C到A替换(c.C>A4073)预测编码蛋白的重复III的第5和6段连接区的外膜孔形成环段中的非保守丝氨酸被赖氨酸替代(p.T1358K)。(来源:J:71860)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2154404
mixed
Chemically induced
单点
隐性
1
15
3
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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