Phenotypes associated with this allele

• Allele Symbol: G6pc1^tm2.2Jyc
• Allele Name: targeted mutation 2.2, Janice Yang Chou
• Allele ID: MGI:4418685
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	G6pc1^tm2.2Jyc/G6pc1^tm2.2Jyc	involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/N	MGI:4418690

Genotype
MGI:4418690

hm1

• Allelic Composition: G6pc1^tm2.2Jyc/G6pc1^tm2.2Jyc
• Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/N

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

Glycogen accumulation in hepatocytes and tubular epithelial cells of the kidney in G6pc1^tm2.2Jyc/G6pc1^tm2.2Jyc mice

behavior/neurological

seizures ( J:155990 )

• develop hypoglycemic seizures requiring glucose therapy

nervous system

seizures ( J:155990 )

• develop hypoglycemic seizures requiring glucose therapy

growth/size/body

postnatal growth retardation ( J:155990 )

increased kidney weight ( J:155990 )

• average kidney weights of 3 week olds are elevated to 2.6% of body weight compared to the wild-type value of 0.7%

increased liver weight ( J:155990 )

• average liver weights of 3 week old mice are elevated to 15.6% of body weight compared to the wild-type value of 4.6%

homeostasis/metabolism

abnormal blood homeostasis ( J:155990 )

• plasma lactic acid levels are elevated 1.6 fold

increased blood uric acid level ( J:155990 )

• elevated 1.6 fold

hypoglycemia ( J:155990 )

increased circulating cholesterol level ( J:155990 )

• 7.2 fold higher than that in the control littermates

increased circulating triglyceride level ( J:155990 )

• 15.9 fold higher than that in the control littermates

increased kidney glycogen level ( J:155990 )

• glycogen accumulation in the tubular epithelial cells of the kidney

increased liver glycogen level ( J:155990 )

• glycogen accumulation in the hepatocytes of the liver

renal/urinary system

increased kidney weight ( J:155990 )

• average kidney weights of 3 week olds are elevated to 2.6% of body weight compared to the wild-type value of 0.7%

increased kidney glycogen level ( J:155990 )

• glycogen accumulation in the tubular epithelial cells of the kidney

liver/biliary system

increased liver weight ( J:155990 )

• average liver weights of 3 week old mice are elevated to 15.6% of body weight compared to the wild-type value of 4.6%

increased liver glycogen level ( J:155990 )

• glycogen accumulation in the hepatocytes of the liver

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease Ia		DOID:2749	OMIM:232200	J:155990