A138T-PCCA-/- Mouse

Technology #2014-330

An adult hypomorphic model of Propionic acidemia (PA) in Pcca− mice using a transgene bearing an A138T mutant of the human PCCA protein. Pcca−/−(A138T) mice have 2% of wild-type PCC activity, survive to adulthood, and have elevations in propionylcarnitine, methylcitrate, glycine, alanine, lysine, ammonia, and markers associated with cardiomyopathy similar to those in patients with PA. Data suggest that this PA model may be a useful platform for optimizing systemic intravenous therapies for PA.

PMID: 23648696