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A gene trap vector inserted into intron 2. RT-PCR analysis of mRNA from various tissues indicated formation of a truncated mRNA fused to beta-galactosidase (beta-geo). Sequencing analysis showed fusion of beta-galactosidase after amino acid residue 24 of HERC2. Immunoblot analysis revealed that protein levels are decreased by ~50% in the brain and kidney of heterozygous mice. HERC2 activities including ubiquitin ligase and stimulation of p53 activity are reduced, as shown by increased levels of USP33 protein and lower levels of p21 mRNA in heterozygous mice. (J:252045)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
