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Phenotypes Associated with This Genotype
Genotype
MGI:4418690
Allelic
Composition
G6pc1tm2.2Jyc/G6pc1tm2.2Jyc
Genetic
Background
involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pc1tm2.2Jyc mutation (0 available); any G6pc1 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Glycogen accumulation in hepatocytes and tubular epithelial cells of the kidney in G6pc1tm2.2Jyc/G6pc1tm2.2Jyc mice

behavior/neurological
• develop hypoglycemic seizures requiring glucose therapy

nervous system
• develop hypoglycemic seizures requiring glucose therapy

growth/size/body
• average kidney weights of 3 week olds are elevated to 2.6% of body weight compared to the wild-type value of 0.7%
• 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
• plasma lactic acid levels are elevated 1.6 fold
• elevated 1.6 fold
• 7.2 fold higher than that in the control littermates
• 15.9 fold higher than that in the control littermates
• glycogen accumulation in the tubular epithelial cells of the kidney
• glycogen accumulation in the hepatocytes of the liver

renal/urinary system
• average kidney weights of 3 week olds are elevated to 2.6% of body weight compared to the wild-type value of 0.7%
• glycogen accumulation in the tubular epithelial cells of the kidney

liver/biliary system
• 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%
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory