Primary Identifier | MGI:87917 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 11512 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium- and calmodulin-responsive adenylate cyclase activity and scaffold protein binding activity. Involved in several processes, including cAMP biosynthetic process; cellular response to forskolin; and cellular response to vasopressin. Located in plasma membrane. Is expressed in several structures, including adipose tissue; alimentary system; brain; cardiovascular system; and genitourinary system. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human ADCY6 (adenylate cyclase 6). PHENOTYPE: Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle. Mice homozygous for a conditional allele activated in collecting ducts exhibit decreased urine osmilality. [provided by MGI curators] |