| Primary Identifier | MGI:88355 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 12558 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including calcium ion binding activity; enzyme binding activity; and identical protein binding activity. Involved in several processes, including cell junction assembly; cell-cell adhesion mediated by cadherin; and neuronal stem cell population maintenance. Acts upstream of or within several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; nervous system development; and regulation of signal transduction. Located in several cellular components, including apicolateral plasma membrane; basolateral plasma membrane; and fascia adherens. Is expressed in several structures, including alimentary system; embryo mesenchyme; intervertebral disc; nervous system; and sensory organ. Used to study attention deficit hyperactivity disorder. Human ortholog(s) of this gene implicated in agenesis of corpus callosum, cardiac, ocular, and genital syndrome; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 14. Orthologous to human CDH2 (cadherin 2). PHENOTYPE: Homozygous mutation of this gene results in death by E10. Mutant embryos exhibit several developmental abnormalities such as growth retardation, an enlarged heart, distended pericardial sacs, abnormal heart tube, wavy neural tube, irregular somite shape, and abnormal embryo turning. Homozygosity for proteolytic cleavage resistance mutations affects hippocampus pyramidal neuron synapse morphology and physiology, leading to fear generalization and enhanced spatial working memory. [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
