| Primary Identifier | MGI:1890646 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 140859 |
| 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 ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Acts upstream of or within determination of left/right symmetry and heart development. Located in ciliary base and ciliary inversin compartment. Is expressed in collecting duct; cortical renal tubule; node; and renal tubule. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in nephronophthisis 9 and renal-hepatic-pancreatic dysplasia. Orthologous to human NEK8 (NIMA related kinase 8). PHENOTYPE: Homozygous mutant mice display kidney cysts primarily in the cortex, progressive kidney enlargement, increased serum creatinine levels, impaired maternal nurturing, and premature death. Heterotaxy with congenital heart disease such as hypoplastic right ventricle and small tricuspid valve is seen. [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
