The Gy mutation: another cause of X-linked hypophosphatemia in mouse.
An X-linked dominant mutation (gyro, gene symbol Gy) in the laboratory mouse causes hypophosphatemia, rickets/osteomalacia, circling behavior, inner ear abnormalities, and sterility in males and a milder phenotype in females. Gy maps closely (crossover value 0.4-0.8%) to another X-linked gene (Hyp) that also causes hypophosphatemia in the mouse. Gy and Hyp genes have similar quantitative expression in serum phosphorus values, renal excretion of phosphate, and impairment of Na+/phosphate cotransport by renal brush-border membrane vesicles. These findings indicate that independent translation products of two X-linked genes serve phosphate transport in mouse kidney and thereby control phosphate content of extracellular fluid. The Gy translation product, unlike the Hyp product, is also expressed in the inner ear. These findings have implications for our understanding of the human counterpart known as "X-linked hypophosphatemia."
Lyon
M F
MF
Scriver
C R
CR
Baker
L R
LR
Tenenhouse
H S
HS
Kronick
J
J
Mandla
S
S
D000469:Alkaline Phosphatase / Q000097:blood; D000818:Animals; D001522:Behavior, Animal / Q000502:physiology; D001692:Biological Transport; D001835:Body Weight; D001846:Bone Development; D002118:Calcium / Q000378:metabolism; D002874:Chromosome Mapping; D003404:Creatinine / Q000097:blood; D005260:Female; D008040:Genetic Linkage; D007015:Hypophosphatemia, Familial / Q000235:genetics / Q000503:physiopathology / Q000662:veterinary*; D007668:Kidney / Q000503:physiopathology; D008297:Male; D051379:Mice / Q000235:genetics*; D008817:Mice, Mutant Strains / Q000502:physiology; D008871:Microvilli / Q000378:metabolism; D009043:Motor Activity; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood; D010641:Phenotype; D010758:Phosphorus / Q000378:metabolism; D012964:Sodium / Q000378:metabolism; D014960:X Chromosome
D010281:Parathyroid Hormone; D010758:Phosphorus; D012964:Sodium; D003404:Creatinine; D000469:Alkaline Phosphatase; D002118:Calcium