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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
Pik3cb
tm1.1Jdo
Alias:
p110beta-RBD-DM
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基础信息
表型特征
文献报道
在基因的催化亚基上引入了S205D(AGT替换为GAT)和K224A(AAA替换为GCA)的点突变,并在第六内含子插入了一个FRT引导的诺卡因选择标记。通过与Tg(ACTFLPe)9205Dym删除型小鼠杂交,诺卡因选择标记被剔除,留下第六/第七内含子上的一个FRT位点。(来源:J:198414)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5646522
C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
--
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
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