| Primary Identifier | MGI:2676556 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 75547 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including MAP-kinase scaffold activity; guanyl-nucleotide exchange factor activity; and small GTPase binding activity. Involved in bone development; cardiac muscle cell differentiation; and regulation of sarcomere organization. Acts upstream of or within regulation of glucocorticoid mediated signaling pathway. Colocalizes with actin filament. Is expressed in 1st branchial arch; cardiac muscle tissue; future forebrain; heart; and limb. Orthologous to human AKAP13 (A-kinase anchoring protein 13). PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. [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
