Phenotypes Associated with This Genotype

Genotype
MGI:3029782

• Allelic Composition: Acads^del-J/Acads^del-J
• Genetic Background: involves: BALB/cByJ

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

behavior/neurological

abnormal liquid preference ( J:87779 )

• did not develop a preference for drinking water containing a corn oil emulsion

abnormal food preference ( J:87779 )

• given a choice, selection of a fat/protein diet declines with time

homeostasis/metabolism

abnormal fatty acid oxidation ( J:14707 )

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

abnormal adaptive thermogenesis ( J:50729 )

• 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

decreased circulating carnitine level ( J:14707 )

• slightly lower plasma carnitine level

decreased circulating glycine level ( J:14707 )

• serum glycine concentrations are markedly lower than in controls

hypoglycemia ( J:14707 )

• hypoglycemia develops after 18 hours of fasting with mean serum glucose measuring less than half of control values

increased circulating HDL cholesterol level ( J:164460 )

• HDL levels were significantly increased in mutant mice for both males and females fed either a regular chow or a high-fat diet

organic aciduria ( J:4165 , J:9743 , J:14707 )

• 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)

ethylmalonic aciduria ( J:4165 , J:9743 )

• ethylmalonate urinary excretion is higher than in controls (J:4165)

• relatively large amounts of ethylmalonate in the urine at 7-14 weeks of age (J:9743)

liver/biliary system

hepatic steatosis ( J:14707 )

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

renal/urinary system

organic aciduria ( J:4165 , J:9743 , J:14707 )

• 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)

ethylmalonic aciduria ( J:4165 , J:9743 )

• ethylmalonate urinary excretion is higher than in controls (J:4165)

• relatively large amounts of ethylmalonate in the urine at 7-14 weeks of age (J:9743)

cellular

abnormal fatty acid oxidation ( J:14707 )

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

muscle

abnormal skeletal muscle morphology ( J:14707 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
short chain acyl-CoA dehydrogenase deficiency		DOID:0080154	OMIM:201470	J:9743