Mouse Genome Informatics
hm1
    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


Mouse Genome Informatics
cx2
    Acadsdel-J/Acadsdel-J
Otcspf/Y

involves: BALB/cByJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 40% mortality in adults (J:4165)

homeostasis/metabolism
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls (J:4165)
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased (J:4165)

renal/urinary system
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls (J:4165)
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased (J:4165)

integument
(J:4165)


Mouse Genome Informatics
cx3
    Acadsdel-J/Acadsdel-J
Otcspf/Otc+

involves: BALB/cByJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls (J:4165)
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased (J:4165)

renal/urinary system
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls (J:4165)
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased (J:4165)


Mouse Genome Informatics
cx4
    Acadsdel-J/Acads+
Otcspf/Y

involves: BALB/cByJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• butyrylglycine and orotic acid urinary excretion is increased compared to wild-type controls (J:4165)
(J:4165)

renal/urinary system
• butyrylglycine and orotic acid urinary excretion is increased compared to wild-type controls (J:4165)
(J:4165)


Mouse Genome Informatics
cx5
    Acadsdel-J/Acadsdel-J
Otcspf/Otcspf

involves: BALB/cByJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 40% mortality in adults (J:4165)

homeostasis/metabolism
• orotic acid urinary excretion is increased (J:4165)

renal/urinary system
• orotic acid urinary excretion is increased (J:4165)