Phenotypes Associated with This Genotype

Genotype
MGI:6157364

• Allelic Composition: Mmut^tm1.1Mrb/Mmut^tm1.1Mrb
• Genetic Background: involves: C57BL/6

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

growth/size/body

weight loss ( J:237040 )

• mice fed a high protein (HP) diet or a precursor-enriched (PE) diet comprised of increased levels of precursor amino acids of propionate pathway metabolites exhibit a rapid weight loss, with more pronounced weight loss of the PE diet

• mice fed a high protein diet and treated with cobalamin do no show weight loss

postnatal growth retardation ( J:237040 )

• mice show significant growth retardation after the age of about 100 days in females and about 150 days in males

homeostasis/metabolism

increased circulating carnitine level ( J:237040 )

• propionylcarnitine (normalized to acetylcarnitine) in blood is elevated, although to a lower extent than in compound heterozygous Mut^tm1Pai/Mut^tm1.1Mrb mice

• mice fed a HP or PE diet show further elevations in propionylcarnitine levels

• mice fed a HP diet and treated with cobalamin show delayed elevations in propionylcarnitine

increased circulating glycine level ( J:237040 )

• mice exhibit elevated glycine levels in blood

• however, other amino acid levels are mostly unchanged

increased circulating ammonia level ( J:237040 )

• mice fed a HP or PE diet show increased ammonia levels, indicative of metabolic crisis induction

• however, mice fed a regular chow diet exhibit normal ammonia levels

• mice fed a HP diet and treated with cobalamin exhibit delayed elevation of ammonia

abnormal fatty acids level ( J:237040 )

• mice exhibit increased levels of odd chain fatty acids in plasma, predominantly of the 13-carbon chain length fatty acid

• however, levels of even chain fatty acids are normal

acidosis ( J:237040 )

• methylmalonic acid is elevated in tissues and dried blood, although to a lower extent than in compound heterozygous Mut^tm1Pai/Mut^tm1.1Mrb mice

• mice fed a HP or PE diet show further elevations in methylmalonic acid levels

methylmalonic aciduria ( J:237040 )

• methylmalonic acid levels are elevated in urine, although to a lower extent than in compound heterozygous Mut^tm1Pai/Mut^tm1.1Mrb mice

• mice fed a HP or PE diet show further elevations in methylmalonic acid levels

renal/urinary system

methylmalonic aciduria ( J:237040 )

• methylmalonic acid levels are elevated in urine, although to a lower extent than in compound heterozygous Mut^tm1Pai/Mut^tm1.1Mrb mice

• mice fed a HP or PE diet show further elevations in methylmalonic acid levels

mortality/aging

mortality/aging ( J:237040 )

N • mice exhibit a normal life span

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:237040