| Primary Identifier | MGI:96021 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 15129 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables oxygen carrier activity. Acts upstream of or within erythrocyte development; oxygen transport; and regulation of eIF2 alpha phosphorylation by heme. Located in myelin sheath. Part of hemoglobin complex. Is expressed in several structures, including aorta-gonad-mesonephros; cardiovascular system; extraembryonic component; hemolymphoid system; and liver. Used to study beta thalassemia. Human ortholog(s) of this gene implicated in several diseases, including acute chest syndrome; congenital hemolytic anemia (multiple); polycythemia (multiple); sickle cell disease (multiple); and thalassemia (multiple). Orthologous to human HBB (hemoglobin subunit beta) and HBD (hemoglobin subunit delta). PHENOTYPE: Homozygotes for a deletion of both adult hemoglobin-beta genes resemble human Cooley anemia and die perinatally. Heterozygotes are anemic with hematological abnormalities and iron accumulation. Homozygotes for a missense mutation have hemolytic anemia. [provided by MGI curators] |
| specificity | C57BL/6 mice (reference assembly) has a haplotype known as - single, where two adult beta-globin genes are highly similar to each other, and they are called beta-s (Hbb-bs) and beta-7 (Hbb-bt). Other mouse strains such as BALB/c or 129/SvJ have a haplotype known as - diffuse, where the two adult genes, known as beta-major (Hbb-b1) and beta-minor (Hbb-b2), are different from each other. (J:32353; J:28981) |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
