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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
Elp2
em2Bjw
Alias:
Elp2H206R
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基础信息
表型特征
文献报道
CRISPR/Cas9技术产生了一个在第206位由 Histidine 改变为 Arginine(H206R)的替换。这是一种在发育延迟、智力障碍和自闭症谱系障碍患者中常见的变异(来源:J:306113)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6715576
C57BL/6
Endonuclease-mediated
核苷酸替换
--
1
2
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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