| Primary Identifier | MGI:1916052 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 68802 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable SH3 domain binding activity; cell-cell adhesion mediator activity; and muscle alpha-actinin binding activity. Predicted to be involved in homophilic cell adhesion via plasma membrane adhesion molecules; neuron development; and sarcomere organization. Located in I band. Colocalizes with Z disc. Is expressed in several structures, including diaphragm; eye; heart; liver; and skeletal musculature. Used to study nemaline myopathy 11 and restrictive cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1KK and nemaline myopathy 11. Orthologous to human MYPN (myopalladin). PHENOTYPE: Mice homozygous for a nonsense mutation exhibit Z-streaming and nemaline-like bodies in skeletal muscle, suggesting the presence of mild nemaline-like myopathy. [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
