Pik3r4^mbe

The causative mutation is a T-to-A substitution in the intron upstream of exon 4 of Vps15 (GRCm38p4, chr9: 105,650,312). The T-to-A mutation creates a novel splice acceptor site, which is predicted to introduce a premature stop codon resulting in a truncated protein of 289 amino acids. (J:258027)