Mouse Genome Informatics
cx
    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

Mouse Models of Human Disease
OMIM IDRef(s)
Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency 251000 J:191879