Mut ki/ki mouse (Mmut p.M700K knock-in, mut− form methylmalonic acidemia)
Knock-in mice carrying the p.M700K Mmut variant survive longer than mut0 mice, grow slowly and respond to cobalamin during metabolic crises, showing gene-dosage dependent disease severity.
Model identity
- Model name
- Mut ki/ki mouse (Mmut p.M700K knock-in, mut− form methylmalonic acidemia)
- Species
- mouse
- Genotype / zygosity
- Mut ki/ki
- Allele
- Mmut c.2009T>A (p.M700K)
Biological characteristics
- Research questions
- Which methylmalonic acidemia models reproduce the mut− form with residual enzyme activity and cobalamin responsiveness.
- Limitations
- Phenotype severity is dosage-dependent and milder than mut0; crisis provocation protocols are needed to reveal metabolic decompensation.