Phenotypes Associated with This Genotype

Genotype
MGI:5696978

• Allelic Composition: Pygm^tm1.1Adru/Pygm^tm1.1Adru
• Genetic Background: involves: 129 * C57BL/6J

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

behavior/neurological

decreased grip strength ( J:226312 )

• in the wire grip, none of the homozygous p.R50X mice tested are able to stay more than 34 s unlike controls that can grip longer

decreased aerobic running capacity ( J:226312 )

• when exercise performance was tested with the treadmill device, the maximum exercise time in homozygous mice was only 41% and 29% of that attained by their heterozygous and wt/wt counterparts

homeostasis/metabolism

decreased aerobic running capacity ( J:226312 )

• when exercise performance was tested with the treadmill device, the maximum exercise time in homozygous mice was only 41% and 29% of that attained by their heterozygous and wt/wt counterparts

increased creatine kinase level ( J:226312 )

• levels of plasma creatine kinase (median 1137IU/l; range 3361875) are much higher than controls

increased skeletal muscle glycogen level ( J:226312 )

• massive sub-sarcolemmal accumulation of glycogen in skeletal muscle, yet with glycogen stores also present in the sarcoplasm

myoglobinuria ( J:226312 )

• myoglobinuria is seen in mutant homozygous mice and is undetectable in controls

muscle

increased skeletal muscle glycogen level ( J:226312 )

• massive sub-sarcolemmal accumulation of glycogen in skeletal muscle, yet with glycogen stores also present in the sarcoplasm

increased variability of skeletal muscle fiber size ( J:226312 )

• alterations in skeletal muscle fibre size and shape in which sub-sarcolemmal deposits could be observed

renal/urinary system

myoglobinuria ( J:226312 )

• myoglobinuria is seen in mutant homozygous mice and is undetectable in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease V		DOID:2746	OMIM:232600	J:226312