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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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基础信息
表型特征
文献报道
将细菌的lacZ基因插入,使其由内源性基因驱动β-半乳糖苷酶的表达。在所有分析的组织中都检测到了RNA转录本。lacZ表达几乎存在于所有检查的组织和器官中。在大多数器官中,血管内有染色显现。而在骨髓中未检测到lacZ表达。(来源:原文)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3604530
129P2/OlaHsd
Targeted
载体插入引起的破坏
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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
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