abnormal first pharyngeal pouch morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity (Mammalian Phenotype Ontology, MP_0013222)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013222
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1 gene mutations causing the abnormal first pharyngeal pouch morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
EYA1 EYA transcriptional coactivator and phosphatase 1