| Primary Identifier | MGI:2155808 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 241035 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of epithelial cell apoptotic process; and regulation of establishment of planar polarity. Acts upstream of with a positive effect on branching morphogenesis of an epithelial tube and cell-cell junction organization. Acts upstream of or within cilium assembly and kidney development. Located in several cellular components, including 9+0 non-motile cilium; apical plasma membrane; and extracellular exosome. Is expressed in several structures, including adrenal cortex; gut; mesonephric tubule; metanephros; and ureteric bud. Used to study Caroli syndrome; autosomal recessive polycystic kidney disease; and polycystic kidney disease 4. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). PHENOTYPE: Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts. [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
