| Primary Identifier | MGI:1914502 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 67252 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin binding activity; adenylate cyclase binding activity; and identical protein binding activity. Involved in presynaptic actin cytoskeleton organization. Located in postsynaptic density. Is expressed in several structures, including head mesenchyme; heart; metanephros; telencephalon; and vertebral axis musculature. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human CAP2 (cyclase associated actin cytoskeleton regulatory protein 2). PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [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
