Phenotypes associated with this allele

• Allele Symbol: Mmut^em1Cpv
• Allele Name: endonuclease-mediated mutation 1, Charles P Venditti
• Allele ID: MGI:7431125
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmut^em1Cpv/Mmut^em1Cpv	involves: 129S/SvEv * C57BL/6 * FVB/N	MGI:7608297

Genotype
MGI:7608297

hm1

• Allelic Composition: Mmut^em1Cpv/Mmut^em1Cpv
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

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

mortality/aging

premature death ( J:332892 )

• less than 10% of mice survive to P57, with the greatest mortality seen during the first 2 weeks of life

• neonatal treatment with an adeno-associated viral gene therapy expressing human MMUT (AAV-MMUT) rescues survival

postnatal lethality, incomplete penetrance ( J:332892 )

• more than half of homozygous mice die during the first 2 weeks of life

• treatment at birth with an adeno-associated viral gene therapy expressing human MMUT (AAV-MMUT) results in survival of most pups

growth/size/body

decreased body weight ( J:332892 )

• mice that survive beyond weaning weigh 50% less than controls

postnatal growth retardation ( J:332892 )

• mice that survive beyond weaning are severely growth impaired, with weights that are 50% less than in controls

• neonatal treatment with AAV-MMUT corrects growth

homeostasis/metabolism

increased circulating methylmalonic acid level ( J:332892 )

• plasma methylmalonic acid concentrations are massively elevated

• neonatal treatment with AAV-MMUT reduces methylmalonic acid concentrations

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:332892