Phenotypes Associated with This Genotype

Genotype
MGI:5818291

• Allelic Composition: Gnas^tm5.1Lsw/Gnas^tm5.1Lsw; Tg(Slc5a2-cre)1Tauc/0
• Genetic Background: involves: C57BL/6 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal blood homeostasis ( J:233851 )

• the reduction of plasma phosphate 2 hours after parathyroid hormone injection is about 30% of that in controls, however this difference does not reach significance

• serum FGF23 is increased, although this is not statistically significant

increased circulating parathyroid hormone level ( J:233851 )

decreased circulating calcium level ( J:233851 )

• blood ionized calcium is reduced

• however, serum phosphate and index of fractional phosphate excretion is similar to controls

decreased vitamin D level ( J:233851 )

♂ • males show a reduction in serum 1,25-dihydroxyvitamin D levels

abnormal urine homeostasis ( J:233851 )

• parathyroid hormone-induced urinary cAMP excretion is significantly blunted

renal/urinary system

abnormal urine homeostasis ( J:233851 )

• parathyroid hormone-induced urinary cAMP excretion is significantly blunted

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudohypoparathyroidism		DOID:4184	OMIM:612462	J:233851