| Primary Identifier | MGI:98387 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 20741 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin filament binding activity. Acts upstream of or within hemopoiesis; plasma membrane organization; and porphyrin-containing compound biosynthetic process. Located in cortical cytoskeleton; plasma membrane; and spectrin-associated cytoskeleton. Is expressed in brain; liver; and spleen. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 2. Orthologous to human SPTB (spectrin beta, erythrocytic). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly and jaundice and die within a few days of birth. Homozygotes for a knock-out allele show complete embryonic lethality before implantation. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture, never forming outgrowths. [provided by MGI curators] |
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
