Phenotypes Associated with This Genotype

Genotype
MGI:5293613

• Allelic Composition: Gbe1^tm1Hoa/Gbe1^tm1Hoa
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:176889 )

• no mice survive beyond 39 weeks of age

homeostasis/metabolism

decreased circulating glucose level ( J:176889 )

• mildly hypoglycemic after a 16 h fast

abnormal glucose tolerance ( J:176889 )

• following glucose administration glucose values return to baseline faster than in controls

decreased glycogen catabolism rate ( J:176889 )

• muscle glycogen levels do not change following a 16 h fast but liver glycogen levels do decrease

increased liver glycogen level ( J:176889 )

increased skeletal muscle glycogen level ( J:176889 )

liver/biliary system

abnormal liver morphology ( J:176889 )

• livers contain significant amounts of polyglucosan

increased liver glycogen level ( J:176889 )

cardiovascular system

abnormal heart morphology ( J:176889 )

• at 4 months of age heart sections show polyglucosan bodies

muscle

abnormal skeletal muscle morphology ( J:176889 )

• at 4 months of age skeletal muscle sections show polyglucosan bodies

increased skeletal muscle glycogen level ( J:176889 )

nervous system

abnormal brain morphology ( J:176889 )

• at 4 months of age brain sections show polyglucosan inclusions in the somas and extended processes of neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease IV		DOID:2750	OMIM:232500	J:176889