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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
Lama3
tm1Crt
Alias:
alpha3-
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基础信息
表型特征
文献报道
一种新霉素抗性基因座替换了包含A3外显子的基因片段。这个外显子编码蛋白质两种形式都有的共通序列。去除这个外显子预计会导致移码突变,并导致蛋白质过早终止。对来自纯合小鼠皮肤的免疫组化分析证实,该蛋白无法检测到。(来源:J:55865)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2154553
129/Sv
Targeted
插入,基因内删除
--
1
8
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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