自发突变导致第二外显子发生了一个C到T的转换,这个转换导致了C-端部分缺失,因为214位的谷氨酰胺(CAG)被终止密码子(TAG)取代。RT-PCR结果显示转录本水平下降,而脾脏蛋白提取物的 Western Blots 没有在TRAF3IP2预期的抗体标记位点检测到特异性的信号。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
KOR
Spontaneous
核苷酸替换
隐性
1
4
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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