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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
转基因模型
Tg(PRNP)35Jcol
Alias:
129MM Tg35
Tg(HuPrP129M)
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基础信息
表型特征
文献报道
这个转基因包含了人类的PRNP,其中密码子129处为甲硫氨酸,这是一种影响散发性和获得性朊粒病易感性的多态性位置。(来源:J:131494)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
5760243
mixed
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插入
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1
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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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