Fig. 3. Nebulin protein expression.

a Nebulin isoform expression was assessed in muscles from mice with one Neb^ΔS9-11-allele (this expresses a nebulin lacking super-repeats 9-11, generating a smaller than wild type nebulin) and the other allele either WT, Neb^S6366I or Neb^Δex55. The latter two alleles are expected to produce a nebulin protein of wildtype size (assuming they express protein, see text for details). Top: protein gels with nebulin protein bands; bottom: genotype of mouse from which muscle was obtained (gastrocnemius muscle). The left lane is from a WT mouse revealing WT nebulin and the second lane is from a heterozygous Neb^ΔS9-11 mouse that reveals WT nebulin (top band) and a bottom nebulin band produced by the Neb^ΔS9-11 allele. Lanes 3 and 4 show that the Neb^S6366I allele produces full-length nebulin but that the Neb^Δex55 does not. Identical results (not shown) were obtained in other examined muscle types (EDL, soleus Tibialis C. gastrocnemius and diaphragm), two mice per genotype with 6 muscle types studied per mouse. See text for details. b, c Expression levels of nebulin relative to myosin heavy chain (MHC) in a range of muscle types. Analyzed results (top) and gel examples (bottom) of a Compound-HET mice (Neb^{S6366I/Δexon55}), and b The Neb^S6366I homozygous mice. No differences in nebulin protein levels were found in any of the studied muscle types. 2-Way ANOVA with multiple comparison (multiple comparison correction (Sidak)). ns not significant. Number of mice in b: WT: 9, Compound-Het: 8. Number of mice in c: WT: 6, and S6366I Hom: 7. Source data are provided as a Source Data file.