在exon 1的第118位,引入了一个A到G的转换突变,将赖氨酸(K)替换为arginine(arginine 14R)。这个突变使得蛋白质的半衰期从大约22分钟延长到30分钟,但并未完全丧失抑制活性。体内分析显示,突变蛋白确实被表达出来了。(来源:J:91127)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
单点
--
1
3
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

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PMID
Journal
Year
IF
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