Mouse Genome Informatics
hm
    Muttm1Pai/Muttm1Pai
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• although homozygotes are born normally and exhibit normal activity and suckling shortly after birth, none of them survive past 24 hrs of age

behavior/neurological
• homozygotes display reduced/absent milk spots by 15-18 hrs of age
• however, large gastric milk spots are observed shortly after birth
• homozygotes stop suckling by 15-18 hrs of age
• although homozygotes are initially vigorous, they show a gradual decrease in activity by 15-18 hrs of age

homeostasis/metabolism
• newborn homozygotes show a ~6-fold increase in mean circulating propionylcarnitine (C3) levels relative to wild-type and heterozygous controls
• ratios of propionylcarnitine to free carnitine (C3:C0) and to acetylcarnitine (C3:C2) are ~7-fold higher than in controls
• blood levels of free carnitine (CO) and acetylcarnitine (C2) remain normal
• urinary levels of methylmalonic and methylcitric acids are grossly increased, as shown by gas chromatography-mass spectrometry
• urinary levels of methylmalonic acid are grossly elevated shortly after birth, with progressive accumulation at various time points prior to death
• however, no evidence of ketonuria is observed

renal/urinary system
• urinary levels of methylmalonic and methylcitric acids are grossly increased, as shown by gas chromatography-mass spectrometry
• urinary levels of methylmalonic acid are grossly elevated shortly after birth, with progressive accumulation at various time points prior to death
• however, no evidence of ketonuria is observed

respiratory system
• homozygotes exhibit intermittent gasping prior to death

liver/biliary system
• at 20 hrs (but not at 12 hrs) of age, homozygotes display a moderate fatty change in liver parenchyma

Mouse Models of Human Disease
OMIM IDRef(s)
Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency 251000 J:87081