Phenotypes associated with this allele

• Allele Symbol: G6pc1^tm1Jyc
• Allele Name: targeted mutation 1, Janice Yang Chou
• Allele ID: MGI:2387343
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	G6pc1^tm1Jyc/G6pc1^tm1Jyc	involves: 129S4/SvJae	MGI:2677133

Genotype
MGI:2677133

hm1

• Allelic Composition: G6pc1^tm1Jyc/G6pc1^tm1Jyc
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

premature death ( J:33212 )

• most survive to weaning but only about 12% survive beyond 5 weeks of age

growth/size/body

postnatal growth retardation ( J:33212 )

• weight significantly less than controls throughout post natal development

enlarged kidney ( J:33212 )

• starts to develop around 5 days of age

enlarged liver ( J:33212 )

• hepatomegaly starting by 5 days of age

• liver makes up 20.7% of body mass at 20 days of age

homeostasis/metabolism

increased blood uric acid level ( J:33212 )

• plasma uric acid levels elevated 3 fold

• plasma lactate is not elevated

abnormal glucose homeostasis ( J:33212 )

decreased circulating glucose level ( J:33212 )

• mean plasma glucose significantly reduced

• some mice with seizures that could be relieved by glucose injection

increased kidney glycogen level ( J:33212 )

• mild glycogen accumulation seen in renal tubules of newborn mice

• renal tubular epithelium storage increases after 5 days of age and becomes quite marked by 20-26 days of age

• very severe by 87 days of age

increased liver glycogen level ( J:33212 )

• mild glycogen accumulation seen in liver of newborn mice

• hepatocyte storage increases after 5 days of age and becomes quite marked by 20-26 days of age

• very severe by 87 days of age

abnormal lipid homeostasis ( J:33212 )

increased circulating cholesterol level ( J:33212 )

• plasma cholesterol levels elevated 6 fold

increased circulating triglyceride level ( J:33212 )

• plasma triglyceride levels elevated 8 fold

behavior/neurological

seizures ( J:33212 )

• some mice with seizures that could be relieved by glucose injection

liver/biliary system

enlarged liver ( J:33212 )

• hepatomegaly starting by 5 days of age

• liver makes up 20.7% of body mass at 20 days of age

increased liver glycogen level ( J:33212 )

• mild glycogen accumulation seen in liver of newborn mice

• hepatocyte storage increases after 5 days of age and becomes quite marked by 20-26 days of age

• very severe by 87 days of age

hepatic necrosis ( J:33212 )

• liver necrosis with the development of "blood lakes" by 87 days of age

hepatic steatosis ( J:33212 )

• prominent lipid vacuoles develop in hepatocytes

• severe hepatic lipidosis at 87 days of age

renal/urinary system

enlarged kidney ( J:33212 )

• starts to develop around 5 days of age

increased kidney glycogen level ( J:33212 )

• mild glycogen accumulation seen in renal tubules of newborn mice

• renal tubular epithelium storage increases after 5 days of age and becomes quite marked by 20-26 days of age

• very severe by 87 days of age

renal glomerulus atrophy ( J:33212 )

• compression of glomeruli caused by enlargement of tubular epithelial cells

• become atrophic by 87 days of age

abnormal renal tubule epithelium morphology ( J:33212 )

• increased glycogen storage in tubular epithelial cells causes kidney enlargement

renal tubule atrophy ( J:33212 )

• become atrophic by 87 days of age

dilated renal tubule ( J:33212 )

• by 87 days of age

skeleton

abnormal long bone epiphyseal plate morphology ( J:33212 )

• long bone epiphyses abnormal at 5 days of age

abnormal cartilage development ( J:33212 )

• cartilage dysplasia at 5 days of age

abnormal joint morphology ( J:33212 )

• by 16 days of age, cartilage is growing in irregular plates causing gross deformity of the joints

nervous system

seizures ( J:33212 )

• some mice with seizures that could be relieved by glucose injection

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease Ia		DOID:2749	OMIM:232200	J:33212