| Primary Identifier | MGI:97603 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 18763 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables calcium channel activity and transcription regulator inhibitor activity. Involved in several processes, including cell surface receptor signaling pathway via JAK-STAT; placenta blood vessel development; and protein export from nucleus. Acts upstream of or within several processes, including cartilage condensation; circulatory system development; and regulation of mitotic spindle organization. Located in several cellular components, including Golgi apparatus; cell surface; and motile cilium. Part of polycystin complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and respiratory system. Used to study autosomal recessive polycystic kidney disease; hypertrophic cardiomyopathy; and polycystic kidney disease 1. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting). PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [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
