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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
Rad50
tm4.1Jpt
Alias:
Rad50
46
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基础信息
表型特征
文献报道
在第13外显子引入了核苷酸变异,导致编码肽的Hook区域产生两个氨基酸替换(苏氨酸679R和脯氨酸682E)。在第13内含子插入了含loxP序列的氨苄西林抗性基因座。这些氨基酸替换在靠近参与锌配位的 cysteines 附近引入了电荷,产生了表型异常的等位基因。通过Cre介导的重组,去除了neo基因座。(来源:J:209141)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5614069
129/Sv
Targeted
Insertion, Nucleotide substitutions
--
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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