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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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基因编辑小鼠
Atxn3
em2Jhus
Alias:
97Q
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基础信息
表型特征
文献报道
锌指技术引入了一段扩增的多聚Q序列,包含97个CAACAGCAG的中断重复,位于多聚CAG区域。(来源:J:338892)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7570177
C57BL/6
Endonuclease-mediated
Insertion, Nucleotide repeat expansion
--
1
5
1
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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