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 7.1.0) Predicted to enable heme binding activity and heme transmembrane transporter activity. Acts upstream of or within several processes, including chordate embryonic development; embryonic digit morphogenesis; and spleen development. Located in 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] |