absent ultimobranchial body Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth (Mammalian Phenotype Ontology, MP_0004914)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004914
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3 gene mutations causing the absent ultimobranchial body phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
PAX3 paired box 3
PAX9 paired box 9
TBX1 T-box 1