abnormal blood osmolality Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility (Mammalian Phenotype Ontology, MP_0008996)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008996
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Genes

14 gene mutations causing the abnormal blood osmolality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AQP1 aquaporin 1 (Colton blood group)
AQP2 aquaporin 2 (collecting duct)
AQP3 aquaporin 3 (Gill blood group)
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
CLN3 ceroid-lipofuscinosis, neuronal 3
LOC102723475 putative uncharacterized protein LOC388820
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
RLN1 relaxin 1
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
STEAP3 STEAP family member 3, metalloreductase
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VAMP8 vesicle-associated membrane protein 8