Loss of the Atp2c1 secretory pathway Ca2+-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and …
Loss of one copy of the human ATP2C1 gene, encoding SPCA1 (secretory pathway Ca 2+-
ATPase isoform 1), causes Hailey-Hailey disease, a skin disorder. We performed targeted
mutagenesis of the Atp2c1 gene in mice to analyze the functions of this Golgi membrane Ca
2+ pump. Breeding of heterozygous mutants yielded a normal Mendelian ratio among
embryos on gestation day 9.5; however, null mutant (Spca1-/-) embryos exhibited growth
retardation and did not survive beyond gestation day 10.5. Spca1-/-embryos had an open …
ATPase isoform 1), causes Hailey-Hailey disease, a skin disorder. We performed targeted
mutagenesis of the Atp2c1 gene in mice to analyze the functions of this Golgi membrane Ca
2+ pump. Breeding of heterozygous mutants yielded a normal Mendelian ratio among
embryos on gestation day 9.5; however, null mutant (Spca1-/-) embryos exhibited growth
retardation and did not survive beyond gestation day 10.5. Spca1-/-embryos had an open …
