| Primary Identifier | MGI:87918 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 11518 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of cytoskeleton. Involved in cellular response to calcium ion; positive regulation of adherens junction organization; and positive regulation of establishment of endothelial barrier. Acts upstream of or within several processes, including cell volume homeostasis; erythrocyte differentiation; and hemoglobin metabolic process. Located in adherens junction; cytoskeleton; and membrane. Is active in synapse. Colocalizes with plasma membrane. Is expressed in several structures, including brain; brown fat; liver; lung; and spleen. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in IgA glomerulonephritis; artery disease (multiple); familial combined hyperlipidemia; and gastroschisis. Orthologous to human ADD1 (adducin 1). PHENOTYPE: Targeted gene deletion leads to reduced growth and compensated hemolytic anemia. RBCs are osmotically fragile, dehydrated, and spherocytic with severe loss of membrane surface area and reduced MCV. ~50% of homozygotes develop lethal hydrocephaly with dilation of the lateral, 3rd, and 4th ventricles. [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
