abnormal enteric neural crest cell migration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans) (Mammalian Phenotype Ontology, MP_0013006)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013006
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Genes

3 gene mutations causing the abnormal enteric neural crest cell migration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
PHOX2B paired-like homeobox 2b
RET ret proto-oncogene
SOX10 SRY (sex determining region Y)-box 10