Phenotypes Associated with This Genotype

Genotype
MGI:3607794

• Allelic Composition: Acadvl^tm1Vje/Acadvl^tm1Vje
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:102010 )

• 4 of 12 homozygotes become moribund or die during an 8 hour fasting period at 4 degrees Celsius compared to none of the controls

premature death ( J:102010 )

• exhibit unexpected sudden death later in life

cardiovascular system

abnormal myocardial fiber morphology ( J:98627 )

• exhibit increased numbers of degenerative fibers, collagen deposition, vacuolated myocytes, and increased fat deposition/lipid accumulation in myocytes

• exhibit an increase in mitochondria numbers and mitochondrial cross sectional area and observe scattered bizarre and giant mitochondria in cardiomyoctes

myocardial fiber degeneration ( J:98627 )

• exhibit increased numbers of degenerative fibers

irregular heartbeat ( J:98627 )

• increased susceptibility to the induction of polymorphic ventricular arrhythmias in the absence of systolic dysfunction and absence of exogenously imposed stress

cardiomyopathy ( J:98627 )

• characterized by abnormal myocardial histology and increased arrhythmia susceptibility

muscle

abnormal myocardial fiber morphology ( J:98627 )

• exhibit increased numbers of degenerative fibers, collagen deposition, vacuolated myocytes, and increased fat deposition/lipid accumulation in myocytes

• exhibit an increase in mitochondria numbers and mitochondrial cross sectional area and observe scattered bizarre and giant mitochondria in cardiomyoctes

myocardial fiber degeneration ( J:98627 )

• exhibit increased numbers of degenerative fibers

cardiomyopathy ( J:98627 )

• characterized by abnormal myocardial histology and increased arrhythmia susceptibility

abnormal skeletal muscle fiber morphology ( J:98627 )

• soleus muscle shows marked mitochondrial proliferation, particularly in the subsarcolemmal area, and irregularly sized and chaotically palisaded mitochondria

adipose tissue

abnormal adipose tissue morphology ( J:102010 )

• exhibit increased visceral and cardiac fat storage later in life

homeostasis/metabolism

impaired adaptive thermogenesis ( J:102010 )

• mean body temperature drops significantly more after 8 hours at 4 degrees Celsius than in controls and shivering is not observed

abnormal amino acid level ( J:102010 )

• under well-fed, nonstressed conditions, show an accumulation of long-chain acylcarnitines, with a 2-3-fold increase of the C16 and C18 acylcarnitines and a 2-fold increase in the C20-C24 acylcarnitines, however acetylcarnitine (C2) was reduced and mean free carnitine is reduced to 72% in homozygotes compared to wild-type

• after intense exercise or cold challenge with fasting, sum of C14-C18 long chain acylcarnitines increased compared to wild-type

impaired glucose tolerance ( J:102010 )

• after 8 hours of fasting at 4 degrees Celsius, mean glucose levels decreased more than in controls and did not stabilize at the same levels as in controls

behavior/neurological

fatigue ( J:102010 )

• run at a significantly lower maximum speed compared to controls when exercise to exhaustion on a treadmill

growth/size/body

increased body weight ( J:102010 )

• body weight increases later in life

neoplasm

increased tumor incidence ( J:102010 )

• develop abdominal tumors later in life

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
very long chain acyl-CoA dehydrogenase deficiency		DOID:0080155	OMIM:201475	J:98627 , J:102010