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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(Ckmm-ADAM12)1Umw
Alias:
MCK-ADAM12
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基础信息
表型特征
文献报道
一段完整的人类ADAM12基因cDNA被连接到了CKMM(肌酸激酶,肌肉型)的启动子片段。结果显示,这种肌肉特异性的肌酸激酶启动子能够通过免疫组化和 Western blot 分析在成年骨骼肌中驱动转录表达。(来源:J:79904)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
2447430
(C57BL/6 x CBA)F1
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1
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4
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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