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.
模型身份
- 模型名称
- Mut −/−;MUT2h humanized methylmalonic acidemia mouse
- 物种
- mouse
- 遗传背景
- C57BL/6 x 129SvEv x FVB/N hybrid
- 基因型／合子状态
- Mut −/−; MUT2h
- 等位基因
- human MUT transgene (2 copies)
生物学特性
- 适用研究问题
- Whether humanized transgene rescue enables longitudinal study of methylmalonic acidemia pathophysiology and therapy.
- 模型局限
- Partial rescue via a multi-copy human transgene; residual human MUT expression means tissue metabolite levels do not equal the unrescued mut0 state.