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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
Bmpr2
tm1Mmue
Alias:
Bmpr2
R899X
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基础信息
表型特征
文献报道
第12外显子被替换为一个修改过的外显子,其中第899位的arginine密码子被替换为终止密码子(p.R899*)。在第12内含子中插入了一个由loxP序列引导的诺卡因抗性基因座。这种变异与人类的肺动脉高压有关。(来源:J:224752)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5776726
129S1/SvImJ
Targeted
Insertion, Single point
--
1
9
2
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
No Data Found!
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