| Primary Identifier | MGI:1347048 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 26373 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable chloride transmembrane transporter activity. Predicted to be involved in response to pH and transepithelial chloride transport. Predicted to act upstream of or within monoatomic ion transport. Predicted to be located in lysosome and membrane. Predicted to be part of chloride channel complex. Predicted to be active in lysosomal membrane. Is expressed in several structures, including early conceptus; heart and pericardium; nervous system; oocyte; and submandibular gland primordium. Used to study autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Human ortholog(s) of this gene implicated in autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Orthologous to human CLCN7 (chloride voltage-gated channel 7). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. [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
