Mouse Genome Informatics
hm1
    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 Genome Informatics
cx2
    Muttm1Pai/Muttm1Pai
Tg(MUT*R403X)#Hlps/0

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

homeostasis/metabolism
• high methylmalonic acid in the liver, brain and kidney prior to birth with no increase after birth
• increased C3 propionylcarnitine in the urine and blood 1 day prior to birth, at birth and at 16 hours
• high methylmalonic acid in the blood
• high methylmalonic acid in the urine

renal/urinary system
• high methylmalonic acid in the urine


Mouse Genome Informatics
cx3
    Muttm1Pai/Muttm1Pai
Tg(MUT)AHlps/0
Tg(MUT*R403X)#Hlps/0

involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• high methylmalonic acid in the urine, blood, liver, kidney, brain and muscle at 6 weeks
• increased C3 propionylcarnitine in the urine and blood 1 day prior to birth, at birth and at 16 hours
• high methylmalonic acid in the blood at 6 weeks, but not as much as in Muttm1Pai/Muttm1Pai Tg(MUT*R403X)#Hlps mice
• high methylmalonic acid in the urine at 6 weeks

other phenotype
• mice have occasional episodes of sickness (decreased movement, hunched over and ruffled fur) from which they recover within 2 hours of treatment with a liquid mixture of ground up food pellet and baby formula and placement on a heat pad
• however, feeding mice this diet during the first part of life prevents these episodes

growth/size
• more so in female mice
• more so in female mice

liver/biliary system
• at 2 years

renal/urinary system
• high methylmalonic acid in the urine at 6 weeks