Phenotypes Associated with This Genotype

Genotype
MGI:5293614

• Allelic Composition: Gbe1^tm1.1Hoa/Gbe1^tm1.1Hoa
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

perinatal lethality, complete penetrance ( J:176889 )

• die at or soon after birth

homeostasis/metabolism

abnormal glucose homeostasis ( J:176889 )

• neonates contain detectable amounts of polyglucosan (a poorly branched form of glycogen)

decreased liver glycogen level ( J:176889 )

• livers lack any detectable vacuoles indicating a reduction in glycogen content

decreased skeletal muscle glycogen level ( J:176889 )

cardiovascular system

abnormal heart morphology ( J:176889 )

• extensive vacuolization with prominent and widespread polyglucosan accumulation in hearts of newborn mice

muscle

decreased skeletal muscle glycogen level ( J:176889 )

abnormal muscle physiology ( J:176889 )

• increase in glycogen synthase activity in the absence of glucose 6-phosphate but activity is lower than in controls in the presence of glucose 6-phosphate

liver/biliary system

decreased liver glycogen level ( J:176889 )

• livers lack any detectable vacuoles indicating a reduction in glycogen content

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