|Dataset||MPO Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||any structural anomaly 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_0003955)|
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6 gene mutations causing the abnormal ultimobranchial body morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.