Loss of function mutations in essential genes cause embryonic lethality in pigs - Fig 2
A) POLR1B gene model. The location of the mutation on the splice-donor site of intron 14 is indicated with a red star. B) Illustration of the affected exon-intron splice region. The causal 3:g.43952776T>G mutation is indicated in red. C) Exon skipping of POLR1B. The mutation causes complete exon skipping of exon 14, resulting in a truncated mRNA. D) Alignment of the mutant (Mt) and wildtype (Wt) POLR1B protein sequence. Skipping of exon 14 introduces a glutamic acid and a premature stop codon in the second codon of the terminal exon.