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