Figure 2
From: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
(a) Schematic representation of the large intragenic deletion (represented in red) (g. NC_010460.4 del 6912538_6916702) identified in the CLCN1 gene in myotonic pigs. The red arrows represent the deletion breakpoints. Electropherograms of the myotonic pigs show the 5′ and 3′ boundaries of the deletion junction. Red hyphens represent the DNA deleted fragment. (b) Schematic representation of CLCN1 mRNA transcripts processing in the region between exons 14 and 17 in wild-type animals (top) and myotonic pigs (bottom). Green bars represent the coding region sequence for the first CBS domain. The yellow line in exon 15 represents the Tyrosine residue participating in the formation of the selective chloride pore. Dashed lines represent RNA splicing processing. The red arrows represent the deletion breakpoints. The red lines and boxes represent the DNA deleted region. Note the absence of exons 15 and 16 in transcripts of myotonic animals, and the consequent lack of the tyrosine residue and part of the first CBS domain.
