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 7.1.0) Enables guanyl-nucleotide exchange factor activity. Involved in several processes, including adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process; 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 several structures, including central nervous system; genitourinary system; great vessel of heart; heart; and sensory organ. 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] |