Wansleeben, Carolien van Gurp, Léon Feitsma, Harma Kroon, Carla Rieter, Ester Verberne, Marlies Guryev, Victor Cuppen, Edwin Meijlink, Frits A substitution mutation in <i>Dll1</i> leads to situs inversus and posterior truncation. <p>(A) Whole mount view of <i>Dll1<sup>E26G</sup></i> and wildtype embryos. Note the shorter tail in the mutant. (B) An A-to-G mutation causing a glutamine-to-glycine substitution in the Dll1<sup>E26G</sup> mutant protein. (C) The mutation is localized in the N1 domain. SP, signal peptide; N1, N-terminal domain 1; N2, N-terminal domain 2; DSL, Delta-Serrate-Lag2 domain; EGF repeat, epidermal growth factor-like repeats; TMD, transmembrane domain; PDZL, PDZ (postsynaptic density 95, PSD-85; discs large, Dlg; zonula occludens-1, ZO-1) ligand motif. (D-I) H&E stainings on transverse sections at E9.5. The asterisk in E marks reversed looping compared to wildtype (D). NT, neural tube; Ht, heart. The arrow in G indicates an ectopic neural tube (F). Irregularly shaped neural tube (asterisks) and somites (arrows) in Dll1E26G mutants (H,I). Som, somites; Nc, notochord.</p> substitution;mutation;leads;situs;inversus;posterior 2011-04-29
    https://plos.figshare.com/articles/figure/_A_substitution_mutation_in_Dll1_leads_to_situs_inversus_and_posterior_truncation_/449873
10.1371/journal.pone.0019357.g003