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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
Cisd2
m1Lmt
Alias:
Chirper
Cisd2
Chirper
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基础信息
表型特征
文献报道
这种突变是一种自发的,发生在基因exon 2中一个腺嘌呤核苷酸的丢失。这导致了一个早发的终止密码子,预测会生成一个部分编码的蛋白质。 (Source: Genetic mutation information)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6275045
DDY/JclSidSeyFrkJ
Spontaneous
单点
--
1
2
--
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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