在exon 1内的两个保守的赖氨酸残基被替换为arginine,分别在381位( K381R)和500位( K500R)。还移除了新霉素选择标记。这两个突变阻止了对这两个赖氨酸的SUMO化。(来源:J:273238)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
核苷酸替换
--
1
11
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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