Mutation of the stop codon to Trp, which results in the addition of 12 amino acids to the C-terminus of the DCAF12 protein compared to wild type.
A12015248G
term460W | DCAF12-PA; term460W | DCAF12-PB
term460W
Mutation of the stop codon to Trp.
abnormal neurophysiology
abnormal neurophysiology (with DCAF12Δ51)
lethal - all die during embryonic stage
neuromuscular junction
neuromuscular junction (with DCAF12Δ51)