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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
Smg6
Tg(SMN1*delta5)1Pks
Alias:
SMNDelta5
Tg(SMN1*delta5-Smg6)1Pks
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基础信息
表型特征
文献报道
这种转基因小鼠表达的是人类SMN1基因的一个无5号外显子的cDNA剪接异构体,由SMN1的约750bp最小启动子控制。转基因稳定地整合到Smg6基因的13号内含子中,且在所有分析过的组织中都检测到了表达。(来源:J:169366)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5493450
(C57BL/6 x CBA)F1
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插入
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1
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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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