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.
模型身份
- 模型名称
- Mut ki/ki mouse (Mmut p.M700K knock-in, mut− form methylmalonic acidemia)
- 物种
- mouse
- 基因型／合子状态
- Mut ki/ki
- 等位基因
- Mmut c.2009T>A (p.M700K)
生物学特性
- 适用研究问题
- Which methylmalonic acidemia models reproduce the mut− form with residual enzyme activity and cobalamin responsiveness.
- 模型局限
- Phenotype severity is dosage-dependent and milder than mut0; crisis provocation protocols are needed to reveal metabolic decompensation.