Mouse Genome Informatics
hm
    Acadvltm1Vje/Acadvltm1Vje
involves: 129/Sv * Black Swiss * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• exhibit a decrease in survival after short exposure to cold and fasting unlike wild-type

adipose tissue
• brown adipose tissue shows elevated levels of the uncoupling protein isoforms and peroxisome proliferators-activated receptor-alpha
• brown adipose tissue shows increased oxygen consumption, attributed to uncoupled respiration in the absence of stress

cardiovascular system
• exhibit microvesicular fat infiltration of cardiomyocytes (cardiac lipidosis) after combined stresses of fasting and cold that are not observed in wild-type
• 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
• 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
• develop decreased body temperature during the combined stresses of fasting and cold
• 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
• develop low blood sugar levels during the combined stresses of fasting and cold
• the decrease in liver glycogen levels during the combined stresses of fasting and cold is more pronounced in homozygotes than controls

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

muscle
• 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
OMIM IDRef(s)
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of; ACADVLD 201475 J:106714