Phenotypes associated with this allele

• Allele Symbol: G6pc1^tm1.1Ics
• Allele Name: targeted mutation 1.1, Mouse Clinical Institute
• Allele ID: MGI:5478554
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	G6pc1^tm1.1Ics/G6pc1^tm1.1Ics Alb^tm1(cre/ERT2)Mtz/Alb^+	involves: 129S2/SvPas * C57BL/6J	MGI:5478556
cn2	G6pc1^tm1.1Ics/G6pc1^tm1.1Ics Tg(Kap-icre)29066/2Sig/0	involves: 129S2/SvPas * C57BL/6J * SJL	MGI:5823404

Genotype
MGI:5478556

cn1

• Allelic Composition: G6pc1^tm1.1Ics/G6pc1^tm1.1Ics; Alb^{tm1(cre/ERT2)Mtz}/Alb⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:195257 )

N • unlike in global knock-out mice, glycogen accumulation is not observed in the kidney or intestine of tamoxifen-treated mice

abnormal blood homeostasis ( J:195257 )

• increased serum lactic acid in tamoxifen-treated mice after 10 day or 1 month

• however, levels are normal at 6 and 18 months

increased blood uric acid level ( J:195257 )

• 3-fold in tamoxifen-treated mice after 10 day or 1 month

• however, levels are normal at 6 and 18 months

increased circulating cholesterol level ( J:195257 )

• twice as high in tamoxifen-treated mice

increased circulating triglyceride level ( J:195257 )

• 3-fold in tamoxifen-treated mice

• however, levels at 18 months are normal

increased liver glycogen level ( J:195257 )

• in tamoxifen-treated mice

increased liver triglyceride level ( J:195257 )

• in tamoxifen-treated mice

liver/biliary system

enlarged liver ( J:195257 )

• in tamoxifen-treated mice

increased liver weight ( J:195257 )

• in tamoxifen-treated mice

increased liver glycogen level ( J:195257 )

• in tamoxifen-treated mice

increased liver triglyceride level ( J:195257 )

• in tamoxifen-treated mice

abnormal hepatocyte morphology ( J:195257 )

• large hepatocyte containing large lipid vacuoles in tamoxifen-treated mice

hepatic steatosis ( J:195257 )

• in tamoxifen-treated mice

increased liver adenoma incidence ( J:195257 )

• in tamoxifen-treated mice after a year

• however, no hepatocellular carcinoma is observed

pale liver ( J:195257 )

• in tamoxifen-treated mice

neoplasm

increased liver adenoma incidence ( J:195257 )

• in tamoxifen-treated mice after a year

• however, no hepatocellular carcinoma is observed

growth/size/body

enlarged liver ( J:195257 )

• in tamoxifen-treated mice

increased liver weight ( J:195257 )

• in tamoxifen-treated mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease Ia		DOID:2749	OMIM:232200	J:195257

Genotype
MGI:5823404

cn2

• Allelic Composition: G6pc1^tm1.1Ics/G6pc1^tm1.1Ics; Tg(Kap-icre)29066/2Sig/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * SJL

renal/urinary system

abnormal urine homeostasis ( J:238264 )

♂ • hypercitraturia in tamoxifen treated mice

♂ • however, microlithiasis is not seen and no changes in urine excretion, urea level, ketone bodies level, or creatinuria are seen

increased urine magnesium level ( J:238264 )

♂ • in tamoxifen treated mice

decreased urine pH ( J:238264 )

♂ • urinary pH is more acidic in tamoxifen treated mice than in controls

increased urine phosphate level ( J:238264 )

♂ • in tamoxifen treated mice

increased urine microalbumin level ( J:238264 )

♂ • microalbuminuria in tamoxifen treated mice

increased urine uric acid level ( J:238264 )

♂ • uric acid levels are increased 3-fold in the urine of tamoxifen treated mice

abnormal kidney morphology ( J:238264 )

♂ • marker analysis indicates that kidneys from tamoxifen treated mice show epithelial-mesenchymal transition-like changes, with loss of epithelial markers and overexpression of fibronectin

♂ • lipid deposits in the internal part of the renal cortex of tamoxifen treated mice

♂ • however, glomerulosclerosis is not seen

enlarged kidney ( J:238264 )

♂ • enlarged kidneys in tamoxifen treated mice

increased kidney weight ( J:238264 )

♂

increased kidney glycogen level ( J:238264 )

♂ • glycogen accumulation in the tubules in the external part of the kidney cortex of tamoxifen treated mice

abnormal kidney cortex morphology ( J:238264 )

♂ • alterations of the kidney cortex with a clarification and enlargement of tubular epithelial cells in tamoxifen treated mice

♂ • lipid deposits in the internal part of the renal cortex of tamoxifen treated mice

abnormal podocyte morphology ( J:238264 )

♂ • marker analysis indicates podocyte damage in tamoxifen treated mice

abnormal renal tubule morphology ( J:238264 )

♂ • tubule dilation due to massive accumulation of glycogen

homeostasis/metabolism

increased blood uric acid level ( J:238264 )

♂ • plasma uric acid concentrations are slightly higher in mice treated with tamoxifen at 6-8 weeks of age compared with controls

♂ • however, plasma cholesterol, triglycerides, lactate, and blood urea nitrogen levels are normal in tamoxifen treated mice

increased kidney glycogen level ( J:238264 )

♂ • glycogen accumulation in the tubules in the external part of the kidney cortex of tamoxifen treated mice

abnormal urine homeostasis ( J:238264 )

♂ • hypercitraturia in tamoxifen treated mice

♂ • however, microlithiasis is not seen and no changes in urine excretion, urea level, ketone bodies level, or creatinuria are seen

increased urine magnesium level ( J:238264 )

♂ • in tamoxifen treated mice

decreased urine pH ( J:238264 )

♂ • urinary pH is more acidic in tamoxifen treated mice than in controls

increased urine phosphate level ( J:238264 )

♂ • in tamoxifen treated mice

increased urine microalbumin level ( J:238264 )

♂ • microalbuminuria in tamoxifen treated mice

increased urine uric acid level ( J:238264 )

♂ • uric acid levels are increased 3-fold in the urine of tamoxifen treated mice

growth/size/body

enlarged kidney ( J:238264 )

♂ • enlarged kidneys in tamoxifen treated mice

increased kidney weight ( J:238264 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease Ia		DOID:2749	OMIM:232200	J:238264