| Primary Identifier | MGI:88417 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12723 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable protein homodimerization activity and voltage-gated chloride channel activity. Acts upstream of or within chloride transport and neuronal action potential propagation. Located in sarcolemma. Is expressed in several structures, including central nervous system; early conceptus; heart; oocyte; and skeletal musculature. Used to study myotonia congenita. Human ortholog(s) of this gene implicated in Thomsen disease and myotonia congenita. Orthologous to human CLCN1 (chloride voltage-gated channel 1). PHENOTYPE: Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes. Mice homozygous for an ENU-induced allele exhibit spine deformities and reduced body size. [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
