| Primary Identifier | MGI:2153060 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 118454 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables gap junction channel activity. Acts upstream of or within cell-cell signaling and response to toxic substance. Located in gap junction and myelin sheath. Is expressed in brain; ovary; and spinal cord. Used to study hypomyelinating leukodystrophy 2. Human ortholog(s) of this gene implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to human GJC2 (gap junction protein gamma 2). PHENOTYPE: Mice homozygous for one null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve. [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
