Phenotypes Associated with This Genotype

Genotype
MGI:5464284

• Allelic Composition: Mmut^tm1Pai/Mmut^tm1Pai; Tg(MUT*R403X)#Hlps/0
• Genetic Background: involves: 129S1/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:191879 )

homeostasis/metabolism

abnormal homeostasis ( J:191879 )

• high methylmalonic acid in the liver, brain and kidney prior to birth with no increase after birth

increased circulating carnitine level ( J:191879 )

• increased C3 propionylcarnitine in the urine and blood 1 day prior to birth, at birth and at 16 hours

acidosis ( J:191879 )

• high methylmalonic acid in the blood

methylmalonic aciduria ( J:191879 )

• high methylmalonic acid in the urine

renal/urinary system

methylmalonic aciduria ( J:191879 )

• high methylmalonic acid in the urine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		DOID:0060740	OMIM:251000	J:191879