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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
基因编辑小鼠
Trem2
em4Adiuj
Alias:
Trem2*R47H
HSS
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基础信息
表型特征
文献报道
CRISPR/cas9基因编辑技术通过两个无义突变和一个人类化隐蔽剪接接受体位点在exon 2创建R47H突变。R47H突变是晚发性阿尔茨海默病最强的遗传风险因素之一(来源:J:101977)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6721381
B6(SJL)-Apoetm1.1(APOE*4)Adiuj Trem2em1Adiuj/J
Endonuclease-mediated
核苷酸替换
--
1
8
--
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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