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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(SOD1*G85R)148Dwc
Alias:
G85R line 148
G85R SOD1 line148
Tg(SOD1-G85R)148Dwc
SOD1 G85R line 148
148-G85R
G85R
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基础信息
表型特征
文献报道
人类SOD1的一个12kb的基因组片段,其中的第85位氨基酸由甘氨酸替换为arginine(G85R),这是一个与家族性肌萎缩侧索硬化症(ALS)相关的突变,被用作转基因素材。(来源:J:77600)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
2182171
Not Applicable
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插入
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1
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49
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
No Data Found!
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