abnormal cardiac 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 of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia (Mammalian Phenotype Ontology, MP_0012752)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012752
Similar Terms
Downloads & Tools


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

Symbol Name
EFNB1 ephrin-B1
JUN jun proto-oncogene