Phenotypic assays on wild-type and <i>fmr1</i> mutant embryos.

<p>A) Wild type and mutant embryos were analyzed using whole mount <i>in situ</i> hybridisation using probes against <i>dlx-2a</i>, <i>axial</i> and <i>islet-1</i>. B) The width of Meckel's cartilage was measured in wild type (n = 9) and MZ <i>fmr1</i> mutant (n = 11) embryos. The angle of this structure with regard to the anterior-posterior axis was also measured in wild-type (n = 6) and <i>fmr1</i> mutant (n = 9) embryos. Indicated errors represent SD. C) Neurite branching was measured on Rohon-Beard neurites using the monoclonal antibody zn-12. Plotted is the branching frequency per 1000 µm in both wild-type and MZ stop mutant embryos. In total n = 25 neurites (wild-type) and n = 28 neurites (MZfmr1) were traced in a total of 8 embryos of each genotype. Error bars represent SD.</p

Additional file 9: Table S8. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Characteristics of 116 ENS-related HSCR candidate genes. (XLSX 32 kb

Additional file 7: Table S6. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gene recurrence and burden test. (XLSX 14 kb