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CRISPR/Cas9 technology generated an alanine duplication at position 527 (c.527dupA) resulting in a frameshift that leads to a termination codon 23 residues after the glutamate at amino acid 176 (p.E176Efx23). This results in the complete deletion of the C-terminal solenoid of overlapping ubiquitin-associated (SOUBA) domain and the loss of ubiquitin binding. Mutant transcript was detected in heterozygous brain. (J:332139)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
