Loss of function mutations in essential genes cause embryonic lethality in pigs - Fig 2

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