Primary Identifier | MGI:2444881 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 226844 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heme binding activity; heme transmembrane transporter activity; and organic cation transmembrane transporter activity. Acts upstream of or within several processes, including chordate embryonic development; embryonic digit morphogenesis; and spleen development. Located in mitochondrial membrane and plasma membrane. Is expressed in several structures, including duodenum; ectoplacental cone; immune system; placenta; and yolk sac. Used to study Diamond-Blackfan anemia. Orthologous to human FLVCR1 (FLVCR choline and heme transporter 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. [provided by MGI curators] |