Homozygous carnitine palmitoyltransferase 1a (liver isoform) deficiency is lethal in the mouse
To better understand carnitine palmitoyltransferase 1a (liver isoform, gene= Cpt-1a, protein=
CPT-1a) deficiency in human disease, we developed a gene knockout mouse model. We
used a replacement gene targeting strategy in ES cells that resulted in the deletion of exons
11–18, thus producing a null allele. Homozygous deficient mice (CPT-1a−/−) were not
viable. There were no CPT-1a−/− pups, embryos or fetuses detected from day 10 of
gestation to term. FISH analysis demonstrated targeting vector recombination at the …
CPT-1a) deficiency in human disease, we developed a gene knockout mouse model. We
used a replacement gene targeting strategy in ES cells that resulted in the deletion of exons
11–18, thus producing a null allele. Homozygous deficient mice (CPT-1a−/−) were not
viable. There were no CPT-1a−/− pups, embryos or fetuses detected from day 10 of
gestation to term. FISH analysis demonstrated targeting vector recombination at the …
