| Primary Identifier | MGI:2177632 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 12879 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables chromatin binding activity and transcription corepressor activity. Acts upstream of or within inner ear development; kidney development; and positive regulation of transcription by RNA polymerase II. Located in several cellular components, including cytoskeleton; cytosol; and nucleus. Is expressed in brain; heart; liver; lung; and metanephros. Used to study autosomal recessive polycystic kidney disease. Orthologous to human CYS1 (cystin 1). PHENOTYPE: Homozygous mutant mice display kidneys cysts, enlarged kidneys that distend the abdomen, increased blood urea nitrogen, and die shortly before or soon after weaning. On some strain backgrounds pancreatic and hepatic cysts and fibrosis are also 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
