Phenotypes associated with this allele

• Allele Symbol: Tg(Slc5a2-cre)1Tauc
• Allele Name: transgene insertion 1, Michel Tauc
• Allele ID: MGI:3694735
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mef2c^tm1Jjs/Mef2c^tm1Jjs Tg(Slc5a2-cre)1Tauc/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:4440912
cn2	Gnas^tm5.1Lsw/Gnas^tm5.1Lsw Tg(Slc5a2-cre)1Tauc/0	involves: C57BL/6 * DBA/2	MGI:5818291

Genotype
MGI:4440912

cn1

• Allelic Composition: Mef2c^tm1Jjs/Mef2c^tm1Jjs; Tg(Slc5a2-cre)1Tauc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

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

renal/urinary system

increased kidney cell proliferation ( J:158762 )

• cell proliferation in kidneys is elevated compared to in wild-type kidneys

kidney cortex cyst ( J:158762 )

• at 5 months, 9 of 12 mice exhibit small bilateral cysts with flat lining cells unlike wild-type mice

• mice exhibit small glomerular cysts unlike wild-type mice

dilated renal tubule ( J:158762 )

• in 9 of 12 mice at 5 months

dilated distal convoluted tubule ( J:158762 )

• in 9 of 12 mice at 5 months

dilated proximal convoluted tubule ( J:158762 )

• in 9 of 12 mice at 5 months

cellular

increased kidney cell proliferation ( J:158762 )

• cell proliferation in kidneys is elevated compared to in wild-type kidneys

growth/size/body

kidney cortex cyst ( J:158762 )

• at 5 months, 9 of 12 mice exhibit small bilateral cysts with flat lining cells unlike wild-type mice

• mice exhibit small glomerular cysts unlike wild-type mice

Genotype
MGI:5818291

cn2

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

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