Phenotypes Associated with This Genotype

Genotype
MGI:3655859

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

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:106714 )

• exhibit a decrease in survival after short exposure to cold and fasting unlike wild-type

adipose tissue

abnormal brown adipose tissue morphology ( J:106714 )

• brown adipose tissue shows elevated levels of the uncoupling protein isoforms and peroxisome proliferators-activated receptor-alpha

abnormal brown adipose tissue physiology ( J:106714 )

• brown adipose tissue shows increased oxygen consumption, attributed to uncoupled respiration in the absence of stress

cardiovascular system

abnormal myocardial fiber morphology ( J:106714 )

• exhibit microvesicular fat infiltration of cardiomyocytes (cardiac lipidosis) after combined stresses of fasting and cold that are not observed in wild-type

decreased heart rate ( J:106714 )

• develop severe bradycardia with the combination of fasting and cold stress

• glucose administration in conjunction with rewarming or rewarming alone (but not glucose alone) reverse the bradycardia and rescue the mice

cellular

abnormal cellular respiration ( J:106714 )

• exhibit abnormal mitochondrial bioenergetics of brown adipose tissue after the combination of fasting and cold stresses, as evident by altered mitochondrial oxygen consumption and terminally uncoupled mitochondria

homeostasis/metabolism

impaired adaptive thermogenesis ( J:106714 )

• develop decreased body temperature during the combined stresses of fasting and cold

abnormal amino acid level ( J:106714 )

• upon exposure to stresses of fasting alone or cold alone, mutants are able to maintain normal blood glucose levels, however levels of C16 and C18 acylcarnitines are elevated

hypoglycemia ( J:106714 )

• develop low blood sugar levels during the combined stresses of fasting and cold

decreased glycogen level ( J:106714 )

• the decrease in liver glycogen levels during the combined stresses of fasting and cold is more pronounced in homozygotes than controls

liver/biliary system

macrovesicular hepatic steatosis ( J:106714 )

• exhibit severe macrovesicular hepatic steatosis after the combined stresses of fasting and cold whereas only see minimal fat infiltration in wild-type livers

muscle

abnormal myocardial fiber morphology ( J:106714 )

• exhibit microvesicular fat infiltration of cardiomyocytes (cardiac lipidosis) after combined stresses of fasting and cold that are not observed in wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
very long chain acyl-CoA dehydrogenase deficiency		DOID:0080155	OMIM:201475	J:106714