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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
Gjb6
tm1.1Fama
Alias:
Cx30
T5M
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基础信息
表型特征
文献报道
创建了一个与人类疾病关联的突变相关的人工替换,该替换导致了第5位的甲硫氨酸(Met)被丝氨酸(Thr)替换(位置5的T5M)。在基因下游,插入了一个包含IRSE、lacZ带有核定位信号和FRT引导的neo cassette的构建。通过Flp介导的重组移除了neo cassette。蛋白质表达量的减少通过 Western blot 分析得到了确认(来源:J:166362)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4848154
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion, Nucleotide substitutions
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1
9
8
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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