Phenotypes Associated with This Genotype

Genotype
MGI:5620663

• Allelic Composition: Gaa^tm1Rabn/Gaa^tm1Rabn; Tg(CMV-GAA*P545L)#Kjv/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cellular

abnormal lysosome physiology ( J:219022 )

• mice exhibit lysosomal proliferation indicating increased lysosomal content in the heart and skeletal muscle

homeostasis/metabolism

increased glycogen level ( J:219022 )

• glycogen levels in the heart and gastrocnemius muscle are elevated 4- and 3.5-fold, respectively, compared to wild-type mice and are about 40% and 53%, respectively of those in single Gaa homozygotes

• treatment with AT2220 (1-deoxynojirimycin hydrochloride; duvoglustat hydrochloride) reduces glycogen levels

increased skeletal muscle glycogen level ( J:219022 )

muscle

increased skeletal muscle glycogen level ( J:219022 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease II		DOID:2752	OMIM:232300	J:219022