Phenotypes Associated with This Genotype

Genotype
MGI:5464285

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

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

homeostasis/metabolism

abnormal homeostasis ( J:191879 )

• high methylmalonic acid in the urine, blood, liver, kidney, brain and muscle at 6 weeks

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 at 6 weeks, but not as much as in Mut^tm1Pai/Mut^tm1Pai Tg(MUT*R403X)#Hlps mice

methylmalonic aciduria ( J:191879 )

• high methylmalonic acid in the urine at 6 weeks

abnormal metabolism ( J:191879 )

• 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/body

decreased body size ( J:191879 )

• more so in female mice

decreased body weight ( J:191879 )

• more so in female mice

increased kidney weight ( J:191879 )

• at 2 years

increased liver weight ( J:191879 )

• at 2 years

liver/biliary system

increased liver weight ( J:191879 )

• at 2 years

renal/urinary system

increased kidney weight ( J:191879 )

• at 2 years

methylmalonic aciduria ( J:191879 )

• high methylmalonic acid in the urine at 6 weeks

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