E47同源异构体的DNA结合域通过定点突变引入了两个arginine替换为glycine的错义突变,这些突变理论上可能干扰DNA结合,但不被认为会改变E47同源异构体的自聚。定量RT-PCR结果显示,目标位点产生的转录本减少了40%。该突变影响了剪接,因为E47/E12的转录本比例在纯合突变小鼠中大约增加了80%(来源:J:47671)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
核苷酸替换
--
1
5
4

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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