abnormal mammary gland epithelium physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion (Mammalian Phenotype Ontology, MP_0010172)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010172
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8 gene mutations causing the abnormal mammary gland epithelium physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BRCA1 breast cancer 1, early onset
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
DDR1 discoidin domain receptor tyrosine kinase 1
KDM4B lysine (K)-specific demethylase 4B
PGR progesterone receptor
PYGO2 pygopus family PHD finger 2
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced