跳至主要内容

Mmachc Gt(AZ0348)Wtsi gene-trap cblC mouse

Mmachc gene-trap heterozygotes (Gt/+) show approximately 50% lower MMACHC protein levels and elevated plasma homocysteine and methylmalonic acid. Homozygous Gt/Gt embryos were not found beyond embryonic day E3.5.

模型身份

模型名称
Mmachc Gt(AZ0348)Wtsi gene-trap cblC mouse
物种
mouse
基因型/合子状态
Mmachc Gt(AZ0348)Wtsi
等位基因
gene-trap insertion in intron 1 of Mmachc

生物学特性

适用研究问题
What genetically engineered animal models exist for cblC-type methylmalonic acidemia.
模型局限
Homozygous preimplantation lethality prevents postnatal studies of the Gt/Gt state. Metabolic measurements reported for viable Gt/+ animals must not be attributed to viable homozygous adults.

参考文献

  1. Animal models of methylmalonic acidemia: insights and challenges. PMID:41239408. MMACHC gene-trap section: Gt/+ mice have reduced MMACHC and elevated plasma metabolites; no Gt/Gt embryos were found beyond E3.5.
  2. ARRIVE 2.0 官方规范