Figure 4

Mutation rs475678587 causes partial skipping of exon 23 in UBE3B . Agarose gel electrophoresis of the RT-PCR products reveals that in addition to normal band affected animals also express smaller fragment with primers that flanked the exon 23 (A). Amplicons obtained with primers that flanked the exon 27–29 show no difference between affected and unaffected animals (B). 1 is molecular weight marker. Cerebellum samples 2–4 are from PIRM affected animals and 5 and 6 are from unaffected animals.