Mouse Genome Informatics
hm
    Pfkmtm1Fbos/Pfkmtm1Fbos
involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Pfkmtm1Fbos/Pfkmtm1Fbos mice develop skeletal muscle glycogenosis and exercise intolerance

mortality/aging
• 60% of mice die around weaning
• 60% of mice die around weaning and mice that survive die between 3 and 6 months of age

homeostasis/metabolism
• mice exhibit exercise intolerance and are unable to run for more than 1.5 minutes before developing severe muscle cramps unlike wild-type mice
• serum lactate levels are lower than in wild-type mice
• mice exhibit skeletal muscle hypoxia as determined by marker expression
• intracellular glucose level in skeletal muscle is increased compared to in wild-type mice
• in skeletal muscle, glycogen accumulates in the subsarcolemmal and intermyofibrillar regions altering fiber morphology unlike in wild-type cells
• glycogen accumulates in the diaphragm, intercostal muscle and cardiac muscle unlike in wild-type mice

cardiovascular system
• muscles exhibit hypervascularization unlike in wild-type mice
• with age
• at 2 months, heart weight is increased 55% compared to in wild-type mice
• with age
• without interstitial fibrosis

muscle
• in skeletal muscle, glycogen accumulates in the subsarcolemmal and intermyofibrillar regions altering fiber morphology unlike in wild-type cells
• indicating intense regeneration
• mice exhibit skeletal muscle hypoxia as determined by marker expression
• in skeletal muscle, glycogen accumulates in the subsarcolemmal and intermyofibrillar regions altering fiber morphology unlike in wild-type cells
• glycogen accumulates in the diaphragm, intercostal muscle and cardiac muscle unlike in wild-type mice
• mice exhibit intense skeletal muscle regeneration unlike in wild-type mice

hematopoietic system
• the number of hematopoietic precursor cells in the spleen is increased compared to in wild-type mice
• however, the number of hematopoietic precursor cells in the bone marrow is normal
• increased osmotic fragility results in severe hemolysis

immune system

behavior/neurological
• mice exhibit exercise intolerance and are unable to run for more than 1.5 minutes before developing severe muscle cramps unlike wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Glycogen Storage Disease VII 232800 J:152153