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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
Bpgm
m1Pgrs
Alias:
Bpgm
L166P
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基础信息
表型特征
文献报道
使用N-乙基-N-亚硝基脲(ENU)进行全基因组体内诱变产生了这个T到C的突变,它将Leucine的166位密码子替换为Proline的密码子(p.L166P)。(来源:J:301620)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6506869
C57BL/6
Chemically induced
单点
隐性
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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