abnormal blood-brain barrier function Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood (Mammalian Phenotype Ontology, MP_0005167)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005167
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22 gene mutations causing the abnormal blood-brain barrier function phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ADGRA2 adhesion G protein-coupled receptor A2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
APOE apolipoprotein E
AQP4 aquaporin 4
CLCN2 chloride channel, voltage-sensitive 2
CLDN5 claudin 5
GFAP glial fibrillary acidic protein
HRH3 histamine receptor H3
IL1B interleukin 1, beta
MMP9 matrix metallopeptidase 9
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PDGFB platelet-derived growth factor beta polypeptide
PTAFR platelet-activating factor receptor
RAMP2 receptor (G protein-coupled) activity modifying protein 2
TNFRSF19 tumor necrosis factor receptor superfamily, member 19
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
VWF von Willebrand factor