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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
Tmprss6
hem8
Alias:
hem
m08Jus
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基础信息
表型特征
文献报道
对突变小鼠的测序结果显示,存在一个A856T的转换突变,导致了Ile286变为Phe(I286F),这在体外蛋白酶活性上受到了影响。Ile286是一个在编码蛋白的首个CUB域中高度保守的氨基酸。(来源:J:237155)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5822806
C57BL/6J
Chemically induced
单点
--
1
2
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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