Phenotypes Associated with This Genotype

Genotype
MGI:3840340

• Allelic Composition: Mmut^tm1Cpv/Mmut^tm1Cpv
• Genetic Background: Not Specified

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

mortality/aging

postnatal lethality, complete penetrance ( J:147338 )

• mice die between 24 and 36 hours after birth with respiratory distress

homeostasis/metabolism

abnormal blood homeostasis ( J:147338 )

• at E16.5 and in newborn mice, levels of plasma methylmalonic acid are higher than in wild-type mice

acidemia ( J:147338 )

• at 8 to 12 hours of age, mice exhibit methylmalonic acidemia unlike wild-type mice

dehydration ( J:147338 )

• 24 hours after birth, mice exhibit a reduction in the stomach milk spot and dehydration unlike wild-type mice

aciduria ( J:147338 )

• at 8 to 12 hours of age, mice exhibit methylmalonic aciduria unlike wild-type mice

respiratory system

lung hemorrhage ( J:147338 )

• in 2 of 8 mice

respiratory distress ( J:147338 )

• 24 and 36 hours after birth

liver/biliary system

abnormal liver morphology ( J:147338 )

• at 24 to 36 hours after birth, mice exhibit non-necrotic lipidotic changes in the liver unlike in wild-type mice

nervous system

abnormal brain morphology ( J:147338 )

• the brain appears compressed against the dura mater unlike in wild-type mice

renal/urinary system

aciduria ( J:147338 )

• at 8 to 12 hours of age, mice exhibit methylmalonic aciduria unlike wild-type mice

cardiovascular system

lung hemorrhage ( J:147338 )

• in 2 of 8 mice

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:147338