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.
Model identity
- Model name
- Mmachc Gt(AZ0348)Wtsi gene-trap cblC mouse
- Species
- mouse
- Genotype / zygosity
- Mmachc Gt(AZ0348)Wtsi
- Allele
- gene-trap insertion in intron 1 of Mmachc
Biological characteristics
- Research questions
- What genetically engineered animal models exist for cblC-type methylmalonic acidemia.
- Limitations
- 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.