Phenotypes associated with this allele

• Allele Symbol: G6pc1^em1Jyc
• Allele Name: endonuclease-mediated mutation 1, Janice Yang Chou
• Allele ID: MGI:7506302
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	G6pc1^em1Jyc/G6pc1^em1Jyc	involves: 129S4/SvJae * C57BL/6	MGI:7506311

Genotype
MGI:7506311

hm1

• Allelic Composition: G6pc1^em1Jyc/G6pc1^em1Jyc
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

liver/biliary system

abnormal liver sinusoid morphology ( J:320697 )

• compressed, owing to increased glycogen storage in hepatocytes

enlarged liver ( J:320697 )

• at age 3 weeks

increased liver glycogen level ( J:320697 )

increased liver triglyceride level ( J:320697 )

hepatic steatosis ( J:320697 )

growth/size/body

decreased body size ( J:320697 )

• about half wild-type size at age 3 weeks

slow postnatal weight gain ( J:320697 )

enlarged kidney ( J:320697 )

• at age 3 weeks

enlarged liver ( J:320697 )

• at age 3 weeks

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:320697 )

N

abnormal homeostasis ( J:320697 )

• higher levels of lactate, triglyceride, glycogen and G6P in liver

• reduce hepatic glucose levels

• normal serum lactate levels

increased blood uric acid level ( J:320697 )

hypoglycemia ( J:320697 )

increased circulating cholesterol level ( J:320697 )

increased circulating triglyceride level ( J:320697 )

increased liver glycogen level ( J:320697 )

increased liver triglyceride level ( J:320697 )

renal/urinary system

renal/urinary system phenotype ( J:320697 )

N • no accumulation of fat in kidneys

enlarged kidney ( J:320697 )

• at age 3 weeks

abnormal renal glomerulus morphology ( J:320697 )

• compressed

abnormal renal tubule epithelium morphology ( J:320697 )

• glycogen accumulation

cardiovascular system

abnormal liver sinusoid morphology ( J:320697 )

• compressed, owing to increased glycogen storage in hepatocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease Ia		DOID:2749	OMIM:232200	J:320697