About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory