abnormal mammary gland epithelium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural 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_0009504)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009504
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15 gene mutations causing the abnormal mammary gland epithelium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6
BRCA1 breast cancer 1, early onset
CAV1 caveolin 1, caveolae protein, 22kDa
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CHUK conserved helix-loop-helix ubiquitous kinase
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR2 estrogen receptor 2 (ER beta)
FOXB1 forkhead box B1
GJA1 gap junction protein, alpha 1, 43kDa
MED1 mediator complex subunit 1
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
PGR progesterone receptor
SFN stratifin
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced