Phenotypes associated with this allele

• Allele Symbol: Pfkm^tm1Fbos
• Allele Name: targeted mutation 1, Fatima Bosch
• Allele ID: MGI:4356541
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pfkm^tm1Fbos/Pfkm^tm1Fbos	involves: 129S6/SvEvTac * C57BL/6J	MGI:4356551

Genotype
MGI:4356551

hm1

• Allelic Composition: Pfkm^tm1Fbos/Pfkm^tm1Fbos
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

Pfkm^tm1Fbos/Pfkm^tm1Fbos mice develop skeletal muscle glycogenosis and exercise intolerance

mortality/aging

lethality at weaning, incomplete penetrance ( J:152153 )

• 60% of mice die around weaning

premature death ( J:152153 )

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

growth/size/body

enlarged heart ( J:152153 )

• with age

increased heart weight ( J:152153 )

• at 2 months, heart weight is increased 55% compared to in wild-type mice

cardiac hypertrophy ( J:152153 )

• with age

heart left ventricle hypertrophy ( J:152153 )

• without interstitial fibrosis

enlarged spleen ( J:152153 )

increased spleen weight ( J:152153 )

homeostasis/metabolism

impaired exercise endurance ( J:152153 )

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

increased circulating bilirubin level ( J:152153 )

decreased circulating lactate level ( J:152153 )

• serum lactate levels are lower than in wild-type mice

increased lactate dehydrogenase level ( J:152153 )

• mRNA expression of lactate dehydrogenase is increased in skeletal muscle

hypoxia ( J:152153 )

• mice exhibit skeletal muscle hypoxia as determined by marker expression

abnormal glucose homeostasis ( J:152153 )

• intracellular glucose level in skeletal muscle is increased compared to in wild-type mice

increased cardiac muscle glycogen level ( J:152153 )

• glycogen accumulates in cardiac muscle unlike in wild-type mice

increased skeletal muscle glycogen level ( J:152153 )

• in skeletal muscle, glycogen accumulates in the subsarcolemmal and intermyofibrillar regions altering fiber morphology unlike in wild-type cells

• glycogen accumulates in the diaphragm and intercostal muscle unlike in wild-type mice

cardiovascular system

abnormal angiogenesis ( J:152153 )

• muscles exhibit hypervascularization unlike in wild-type mice

increased cardiac muscle glycogen level ( J:152153 )

• glycogen accumulates in cardiac muscle unlike in wild-type mice

enlarged heart ( J:152153 )

• with age

increased heart weight ( J:152153 )

• at 2 months, heart weight is increased 55% compared to in wild-type mice

cardiac hypertrophy ( J:152153 )

• with age

heart left ventricle hypertrophy ( J:152153 )

• without interstitial fibrosis

muscle

increased cardiac muscle glycogen level ( J:152153 )

• glycogen accumulates in cardiac muscle unlike in wild-type mice

heart left ventricle hypertrophy ( J:152153 )

• without interstitial fibrosis

increased skeletal muscle glycogen level ( J:152153 )

• in skeletal muscle, glycogen accumulates in the subsarcolemmal and intermyofibrillar regions altering fiber morphology unlike in wild-type cells

• glycogen accumulates in the diaphragm and intercostal muscle unlike in wild-type mice

abnormal skeletal muscle fiber morphology ( J:152153 )

• in skeletal muscle, glycogen accumulates in the subsarcolemmal and intermyofibrillar regions altering fiber morphology unlike in wild-type cells

centrally nucleated skeletal muscle fibers ( J:152153 )

• indicating intense regeneration

skeletal muscle fiber degeneration ( J:152153 )

skeletal muscle fiber necrosis ( J:152153 )

abnormal muscle physiology ( J:152153 )

• mice exhibit skeletal muscle hypoxia as determined by marker expression

enhanced skeletal muscle regeneration ( J:152153 )

• mice exhibit intense skeletal muscle regeneration unlike in wild-type mice

hematopoietic system

enlarged spleen ( J:152153 )

increased spleen weight ( J:152153 )

decreased hematocrit ( J:152153 )

reticulocytosis ( J:152153 )

increased hematopoietic stem cell number ( J:152153 )

• 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 erythrocyte osmotic fragility ( J:152153 )

• increased osmotic fragility results in severe hemolysis

immune system

enlarged spleen ( J:152153 )

increased spleen weight ( J:152153 )

behavior/neurological

impaired exercise endurance ( J:152153 )

• 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		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease VII		DOID:11721	OMIM:232800	J:152153