Mut −/−;MUT2h humanized methylmalonic acidemia mouse
Crossing the null Mut allele with the two-copy human MUT transgene produces hemizygous mice with partial rescue of neonatal lethality, supporting long-term study of elevated methylmalonic acid.
Model identity
- Model name
- Mut −/−;MUT2h humanized methylmalonic acidemia mouse
- Species
- mouse
- Genetic background
- C57BL/6 x 129SvEv x FVB/N hybrid
- Genotype / zygosity
- Mut −/−; MUT2h
- Allele
- human MUT transgene (2 copies)
Biological characteristics
- Research questions
- Whether humanized transgene rescue enables longitudinal study of methylmalonic acidemia pathophysiology and therapy.
- Limitations
- Partial rescue via a multi-copy human transgene; residual human MUT expression means tissue metabolite levels do not equal the unrescued mut0 state.