Fig. 2
From: Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion
Neb transcript restoration and protein expression. (A) RNAseq Sashimi plots from n = 4 Hmz-NebΔExon55 HOM animals encompassing Neb exons 54–56. Numbers with connecting arches indicate splice junction reads. There is a reduction to ~6.4% in pseudoexon inclusion in Hmz-NebΔExon55 mice, with 94% of transcripts favoring complete exon skipping of exon 55 with no additional intronic sequence. (B) RNAseq comparing Neb transcripts per million (TPM) reads between n = 2 WT and HOM NebΔExon55 mice and n = 4 WT and HOM Hmz-NebΔExon55 mice. Transcript reads indicate a decrease in HOM NebΔExon55 mice Neb transcript levels and no significant change in Hmz-NebΔExon55 mice Neb transcript levels. (C) Western blot with an antibody to the N-terminus of nebulin comparing Hmz-NebΔExon55 WT and Hmz-NebΔExon55 tibialis anterior (TA), extensor longus digitorum (EDL), and soleus (SOL) nebulin protein expression normalized to PonceauS (Pon(S)) myosin heavy chain (MHC) staining. n = 3 Hmz-NebΔExon55 mice see a reduction to 22.2% (TA), 23.9% (EDL), and 40% (SOL) WT nebulin protein expression levels.