Phenotypes Associated with This Genotype

Genotype
MGI:5695480

• Allelic Composition: Agl^{tm1a(EUCOMM)Wtsi}/Agl^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

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

behavior/neurological

decreased grip strength ( J:212003 )

• muscle strength of the forelimb and hind legs in the grip test are lower at 62 weeks of age

decreased locomotor activity ( J:212003 )

• reduction in motor activity at 1 year of age

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:212003 )

• severe glycogen accumulation in the heart muscle

hypoglycemia ( J:212003 )

• hypoglycemia in 3 week old mice

• blood glucose levels are reduced after 12 hours of fasting in 3 week old mice but not at 8 weeks of age

• however, triglycerides and total cholesterol are normal at 3 and 8 weeks of age after 12 hours of fasting

increased circulating alanine transaminase level ( J:212003 )

• both mice fed ad-lib and those with repeated fasting show increased serum alanine transaminase levels compared to controls

• liver transaminases further increase with age

increased circulating alkaline phosphatase level ( J:212003 )

• both mice fed ad-lib and those with repeated fasting show increased serum alkaline phosphatase levels compared to controls

increased circulating aspartate transaminase level ( J:212003 )

• both mice fed ad-lib and those with repeated fasting show increased serum aspartate transaminase levels compared to controls

increased circulating creatine kinase level ( J:212003 )

• after fasting, 7 week old mice show increased creatine phosphokinase levels

• however, creatine phosphokinase levels are normal in mice fed ad-lib

increased liver glycogen level ( J:212003 )

• severe glycogen accumulation in the liver

increased skeletal muscle glycogen level ( J:212003 )

• severe glycogen accumulation in the diaphragm, quadriceps, and gastrocnemius muscles

liver/biliary system

enlarged liver ( J:212003 )

• hepatomegaly in 4 week old mice

increased liver glycogen level ( J:212003 )

• severe glycogen accumulation in the liver

abnormal hepatocyte morphology ( J:212003 )

• enlarged hepatocytes with pale cytoplasm at 4 weeks of age

liver fibrosis ( J:212003 )

• progressive liver fibrosis after 4 weeks of age, with mild fibrosis and periportal fibrosis at 18 weeks of age and expended area of fibrosis by 28 weeks of age

• however, mice do not develop hepatic adenoma or carcinoma up to 40 weeks of age

mortality/aging

premature death ( J:212003 )

• with repeated fasting, 50% of mice die before 40 weeks of age

muscle

increased cardiac muscle glycogen level ( J:212003 )

• severe glycogen accumulation in the heart muscle

increased skeletal muscle glycogen level ( J:212003 )

• severe glycogen accumulation in the diaphragm, quadriceps, and gastrocnemius muscles

muscle weakness ( J:212003 )

• 1 year old mice show signs of muscle weakness

cardiovascular system

increased cardiac muscle glycogen level ( J:212003 )

• severe glycogen accumulation in the heart muscle

growth/size/body

enlarged liver ( J:212003 )

• hepatomegaly in 4 week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease III		DOID:2748	OMIM:232400	J:212003