Phenotypes Associated with This Genotype

Genotype
MGI:5313256

• Allelic Composition: Nhlrc1^tm1Bmin/Nhlrc1^tm1Bmin
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr

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

nervous system

Lafora bodies ( J:181674 )

• at 6 months, mice exhibit numerous Lafora bodies in the skeletal muscle, liver and brain (in the neuronal perikarya and dendrites) unlike in wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:181674 )

N • glycogen synthase quantity and activity is normal

decreased glycogen catabolism rate ( J:181674 )

• at 6 months, glycogen phosphate content is increased 1.5-fold in skeletal muscle and liver compared to in wild-type mice

increased liver glycogen level ( J:181674 )

• 1.2-fold at 6 months

increased skeletal muscle glycogen level ( J:181674 )

• 1.6-fold at 6 months

liver/biliary system

increased liver glycogen level ( J:181674 )

• 1.2-fold at 6 months

muscle

increased skeletal muscle glycogen level ( J:181674 )

• 1.6-fold at 6 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Lafora disease		DOID:3534	OMIM:254780	J:181674