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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(HSA*SR)29Cath
Alias:
Tg(HSA*SR)26Cath
SR29
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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HSA,其中插入了一个非扩增的(5个拷贝)CTG,位于最后一个外显子。创建了7个表达仅限于骨骼肌的转基因品系。这些品系中有6个插入点,其表达水平从无到与人类骨骼肌中HSA的表达相当(来源:J:64493)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
3763912
FVB/N
--
插入
--
1
--
6
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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