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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
Daxx
tm1Maul
Alias:
Daxx
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基础信息
表型特征
文献报道
一个新霉素抗性基因替换了exon 3的部分区域,并占据了exons 4-7的所有内容,导致最后512个氨基酸被消除。前227个氨基酸据信是不稳定的,因为北标和西标检测未发现转录物。细胞系的PCR结果显示突变体中存在重组。(来源:J:91881)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3051780
129/Sv
Targeted
插入,基因内删除
--
1
1
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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