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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
Mip
tm1.1Itl
Alias:
AQP0
deltaC
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基础信息
表型特征
文献报道
在第246个密码子后插入了一个终止密码子,预测会表达出一个缺失247到263个氨基酸的截短蛋白。通过Flp介导的重组,在生殖细胞中移除了相邻的诺卡因选择标记 cassette(来源:J:272334)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6367813
(C57BL/6NTac x 129S6/SvEvTac)F1
Targeted
核苷酸替换
--
1
8
3
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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