Mut −/− mouse (mut0 methylmalonic acidemia)
Mut −/− mice lack methylmalonyl-CoA mutase (MCM) activity, accumulate methylmalonic acid, methylcitric acid and C3 acylcarnitine, and die within 24 hours of birth, reproducing the mut0 form of methylmalonic acidemia.
Model identity
- Model name
- Mut −/− mouse (mut0 methylmalonic acidemia)
- Species
- mouse
- Genotype / zygosity
- Mut −/−
- Allele
- exon 3 of Mmut replaced by antibiotic selection marker
Biological characteristics
- Research questions
- What genetically engineered animal models exist for methylmalonic acidemia and what are their characteristics.
- Limitations
- Neonatal lethality restricts study to the immediate postnatal window or to intervention experiments begun before birth.