Phenotypes Associated with This Genotype

Genotype
MGI:5767124

• Allelic Composition: Gbe1^tm2.1Hoa/Gbe1^tm2.1Hoa
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:226481 )

• mice survive up to 80 weeks

behavior/neurological

decreased grip strength ( J:226481 )

weakness ( J:226481 )

• mice exhibit significant weakness

hindlimb paralysis ( J:226481 )

• mice show spastic paraplegia and cannot use their hind limbs after 1 year of age

spasticity ( J:226481 )

homeostasis/metabolism

increased circulating creatine kinase level ( J:226481 )

• increase in serum creatine kinase activity

abnormal glucose homeostasis ( J:226481 )

• accumulation of poorly branched from of glycogen, polyglucosan, in the neuropil, skeletal muscle, cardiac muscle, and liver

• newborns show accumulation of polyglucosan bodies in choroid plexus, brain stem, muscle, dorsal root ganglion cells, liver, and epithelial cells of the brain, but not in the cerebral cortex or heart muscle

• accumulated polyglucosan bodies are ubiquitinylated

decreased fasting circulating glucose level ( J:226481 )

abnormal muscle glycogen level ( J:226481 )

• muscle glycogen content is increased

increased glycogen level ( J:226481 )

increased brain glycogen level ( J:226481 )

increased liver glycogen level ( J:226481 )

• brain, heart, liver, and muscle glycogen content is increased

liver/biliary system

increased liver glycogen level ( J:226481 )

• brain, heart, liver, and muscle glycogen content is increased

liver fibrosis ( J:226481 )

• moderate perisinusoidal/pericellular dense collagen bundles are seen in the liver, indicating fibrosis

muscle

abnormal muscle glycogen level ( J:226481 )

• muscle glycogen content is increased

nervous system

increased brain glycogen level ( J:226481 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease IV		DOID:2750	OMIM:232500	J:226481