Ubap1^em1Yta

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)