ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis

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Figure 1.
Figure 1.

Elp1 is required for normal enteric nervous system (ENS) development. A, B, Hu+ enteric neurons (green) in the hindgut of Wnt1-cre;Elp1loxp/loxp cKO are significantly reduced in number compared with control littermate E17.5 mice; p = 0.0138; unpaired t test, N = 4: 4 cKO hindgut and 4 littermate control hindgut whole mounts were imaged across 13 fields each, at 63×. C, D, All Hu+ enteric neurons were also significantly reduced in the esophagus–duodenum junction region of the stomach in the cKO compared with controls at E17.5; p = 0.0006, unpaired t test, N = 3. All neurons were counted in the stomach between the junction with the esophagus and the duodenum. Sympathetic innervation (TH, red) is also reduced in the cKO stomach. E, While not quantified, enteric neurons often appear less evenly distributed in the E17.5 cKO stomach compared with the control and instead, are often more clustered. See Extended Data Figure 1.1 for more details.

  1. The Journal of Neuroscience vol. 44 no. 37
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