Mouse Genome Informatics
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    Acadsdel-J/Acadsdel-J
BALB/cByJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• did not develop a preference for drinking water containing a corn oil emulsion
• given a choice, selection of a fat/protein diet declines with time

homeostasis/metabolism
• block in short-chain fatty acid oxidation shown by reduced butyryl-CoA dehydrogenation in liver mitochondria
• body temperature in most BALB/cByJ mice dropped 10 degrees C in less than 4 h at 4 degrees C, with none able to maintain body temperature for longer than 8 h in the cold
• serum glycine concentrations are markedly lower than controls
• slightly lower plasma carnitine level
• hypoglycemia develops after 18 hours of fasting with mean serum glucose measuring less than half of control values
• HDL levels were significantly increased in mutant mice for both males and females fed either a regular chow or a high-fat diet
• ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher than in controls (J:4165)
• organic aciduria at 7-14 weeks of age, caused by relatively large amounts of n-butyrylglycine and ethylmalonate in the urine (J:9743)
• markedly increased urinary concentrations of ethylmalonic and methylsuccinic acids, and N-butyrylglycine in nonfasting and fasting mice, and remained elevated with or without medium chain triglyceride challenge (J:14707)
• upon dosing with carnitine, mice excrete large amounts of butyryl-carnitine in the urine (J:14707)

liver/biliary system
• fat deposits accumulate in the liver after 18 hours of fasting or with dietary fat challenge

renal/urinary system
• ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher than in controls (J:4165)
• organic aciduria at 7-14 weeks of age, caused by relatively large amounts of n-butyrylglycine and ethylmalonate in the urine (J:9743)
• markedly increased urinary concentrations of ethylmalonic and methylsuccinic acids, and N-butyrylglycine in nonfasting and fasting mice, and remained elevated with or without medium chain triglyceride challenge (J:14707)
• upon dosing with carnitine, mice excrete large amounts of butyryl-carnitine in the urine (J:14707)

cellular
• block in short-chain fatty acid oxidation shown by reduced butyryl-CoA dehydrogenation in liver mitochondria

muscle
• wehn dosed with carnitine, mutant muscle exhibits a 9-fold increase in butyryl-carnitine concentration compared to controls

Mouse Models of Human Disease
OMIM IDRef(s)
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of; ACADSD 201470 J:9743