Mouse Genome Informatics
hm
    Acadvltm1Vje/Acadvltm1Vje
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 4 of 12 homozygotes become moribund or die during an 8 hour fasting period at 4 degrees Celsius compared to none of the controls
• exhibit unexpected sudden death later in life

cardiovascular system
• 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
• exhibit increased numbers of degenerative fibers
• increased susceptibility to the induction of polymorphic ventricular arrhythmias in the absence of systolic dysfunction and absence of exogenously imposed stress
• characterized by abnormal myocardial histology and increased arrhythmia susceptibility

muscle
• 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
• exhibit increased numbers of degenerative fibers
• characterized by abnormal myocardial histology and increased arrhythmia susceptibility
• soleus muscle shows marked mitochondrial proliferation, particularly in the subsarcolemmal area, and irregularly sized and chaotically palisaded mitochondria

adipose tissue
• exhibit increased visceral and cardiac fat storage later in life

homeostasis/metabolism
• mean body temperature drops significantly more after 8 hours at 4 degrees Celsius than in controls and shivering is not observed
• 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
• 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
• run at a significantly lower maximum speed compared to controls when exercise to exhaustion on a treadmill

growth/size/body
• body weight increases later in life

tumorigenesis
• develop abdominal tumors later in life

Mouse Models of Human Disease
OMIM IDRef(s)
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of; ACADVLD 201475 J:98627 , J:102010