Phenotypes Associated with This Genotype

Genotype
MGI:6459755

• Allelic Composition: Tg(CAG-EPM2A*C266S)1Bmin/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:120356 )

• muscle contains approximately 2x as much glycogen as wild-type mice

abnormal enzyme/coenzyme activity ( J:120356 )

• glycogen synthase activity in the presence of glucose-6-P is increased by about 50% in muscle

nervous system

nervous system phenotype ( J:262504 )

N • mice do not exhibit seizures or neurodegeneration

Lafora bodies ( J:262504 )

• all mice exhibit Lafora body formation; Lafora body formation is extensive in the hippocampus, with smaller amounts in the basal forebrain and sparse amounts in the rest of the brain

• 12 month old mice have more Lafora bodies than younger mice but no further increase in seen at 20 months

• Lafora bodies are in the neuropil and within neuronal cell bodies but not in axonal tracts or glia and are mostly spherical in shape with dense accumulation of fibrillar material in the center

• Lafora bodies are near the perinuclear ER in the soma and within dendrites in the neuropil

• a high proportion of skeletal muscle fibers contain large polyglucosan pools, present primarily in the subsarcolemma adjacent to myonuclei and at the neuromuscular junctions and some in the sarcoplasm between sarcomeres

• the myocardium shows accumulation of large polyglucosan pools

• numerous Lafora bodies are seen in hepatocytes, occupying the majority of the cytoplasm and displacing the nucleus and other organelles peripherally; Lafora bodies consist of a mixture of polyglucosan fibrils and glycogen rosettes

muscle

increased skeletal muscle glycogen level ( J:120356 )

• muscle contains approximately 2x as much glycogen as wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Lafora disease		DOID:3534	OMIM:254780	J:120356 , J:262504