Analysis Tools
mortality/aging
|
• a small number of animals die suddenly between 2-14 weeks of age
|
|
• partial embryonic lethality, lower than expected number of pups
|
cardiovascular system
|
• after an overnight fast, mutants develop microvesicular cardiac lipidosis (cardiac lesions)
(J:51660)
• fasted mice display fatty change in hearts
(J:72193)
|
|
• 10% of adult males have severe, multifocal myocardial fibrosis
|
homeostasis/metabolism
|
• mutant mice tested were very sensitive to the cold, with rectal temperature dropping 10-15 degrees C within 2 hours of exposure to 4 degrees C
|
|
• C10, C12 and C14 acylcarnitine esters are elevated
• concentration of total acylcarnitine metabolites is higher than in homozygous Acadvltm1Uab mutants or in wild-type mice
• C14:2 and C14:1 acylcarnitine esters are elevated in the blood
|
hypoglycemia
(
J:51660
)
|
• fasted mutants have reduced mean serum glucose concentration, however concentrations are highly varied
|
|
• fasted mice display fatty change in hearts
|
|
• serum fatty acids C14:2 and C14:1 are elevated
• significant accumulation of liver fatty acids, with the highest absolute elevation of Myristate (C14) and the largest proportionate increase of C14:1 with respect to wild-type levels
|
|
• fasted mutants show an elevation in serum FFA levels
|
|
• specific elevations in unsaturated fatty acids: docenedioic, tetradecenedioic, tetradecadienoic, oleic and linoleic acids
|
|
• urine organic analysis of fasted mice shows excretion of high levels of adipic, octenedioic, decenedioic, and hydroxydecenedioic acids compared to wild-type, indicating dicarboxylic aciduria
(J:51660)
• significantly elevated suberic acid (C8:0) and octenedioic acid (C8:1) in the urine of fasted, but not fed, mice compared to wild-type
(J:72193)
|
|
• cultured fibroblasts show a 28% reduction in ability to dehydrogenate palmitoyl-CoA compared to wild-type
(J:51660)
• reduction in mitochondrial acyl-CoA dehydrogenase activity toward octanoyl-CaA, palmitoyl-CoA, 2,6-dimethlylheptanoyl-CoA, and Oleoyl-CoA in liver, heart and skeletal muscle
(J:72193)
|
liver/biliary system
|
• after an overnight fast, mutants develop severe and diffuse macrovesicular hepatic steatosis
(J:51660)
• fasted mice display severe hepatosteatosis with predominantly large, uniformly distributed droplets throughout the livers
(J:72193)
|
|
• after an overnight fast, mutants develop severe and diffuse microvesicular hepatic steatosis
|
|
• bile of fasted mutants contains extremely high concentrations of C14:1 and C14:2 acylcarnitines
|
reproductive system
|
• on average 6.7 pups per litter compared to 8.5 in wild-type
(J:72193)
|
renal/urinary system
|
• urine organic analysis of fasted mice shows excretion of high levels of adipic, octenedioic, decenedioic, and hydroxydecenedioic acids compared to wild-type, indicating dicarboxylic aciduria
(J:51660)
• significantly elevated suberic acid (C8:0) and octenedioic acid (C8:1) in the urine of fasted, but not fed, mice compared to wild-type
(J:72193)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| very long chain acyl-CoA dehydrogenase deficiency | DOID:0080155 |
OMIM:201475 |
J:51660 | |
