Fig. 1

pomt1 nonsense variant leads to complete loss of protein and protein function. (A) Schematic of the gene structure of pomt1 including the location of the variant in exon 19. (B) Sanger sequencing validation shows the stop codon generated in the KO genome. (C) qPCR analysis showed consistent reduction in pomt1 mRNA apart from 10 dpf. All groups included 3?5 samples generated from composites of at least three animals. Although consistently trending within and over time points, data was not significantly different among genotypes. (D) Pomt1 is completely absent on Western blot in 30 dpf protein lysates from KOHet fish. (E) ?-DG glycosylation is absent in KOHet tissue while ?-DG expression is preserved. Alt-text. This figure shows confirmatory sequencing of the mutation in the fish line and RNA and protein analysis showing no change in mRNA expression, but loss of protein and alpha-dystroglycan glycosylation.