Phenotypes associated with this allele

• Allele Symbol: Mmut^em2Cpv
• Allele Name: endonuclease-mediated mutation 1, Charles P Venditti
• Allele ID: MGI:7431126
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmut^em2Cpv/Mmut^em2Cpv	involves: 129S/SvEv * C57BL/6 * FVB/N	MGI:7608335

Genotype
MGI:7608335

hm1

• Allelic Composition: Mmut^em2Cpv/Mmut^em2Cpv
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

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

mortality/aging

mortality/aging ( J:332892 )

N • no differences in survival are seen at 111 days, indicating no disease-related mortality

growth/size/body

postnatal growth retardation ( J:332892 )

• mice show retarded growth during the first 4 months of life

• treatment with an adeno-associated viral gene therapy expressing human MMUT (AAV-MMUT) increases body weight by an average of 45% within one week of treatment to a size not significantly different from heterozygotes

homeostasis/metabolism

increased circulating methylmalonic acid level ( J:332892 )

• plasma methylmalonic acid concentrations are elevated

• gene therapy treatment with AAV-MMUT decreases plasma methylmalonic acid concentrations by over 75% 3 weeks after treatment

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