| Primary Identifier | MGI:1196466 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 13511 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable calcium ion binding activity and cell adhesion molecule binding activity. Predicted to be involved in several processes, including Purkinje myocyte development; homophilic cell adhesion via plasma membrane adhesion molecules; and regulation of heart contraction. Located in desmosome. Is expressed in several structures, including alimentary system; epithelium; genitourinary system; respiratory system; and vibrissa. Used to study arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; and intrinsic cardiomyopathy. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; dilated cardiomyopathy; and dilated cardiomyopathy 1BB. Orthologous to human DSG2 (desmoglein 2). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance. Conditional homozygous KO in intestinal epithelial cells increases susceptibility to dextran sodium sulfate (DSS)-induced colitis. Homozygosity for the p.W56A mutation affects cell-cell adhesion, leading to hypertrophic cardiomyopathy, arrhythmia and partial embryonic lethality. [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
