| Primary Identifier | MGI:96709 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 16716 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable peptidase activity. Acts upstream of or within muscle organ development and neuromuscular junction development. Located in Z disc. Human ortholog(s) of this gene implicated in myofibrillar myopathy 7. Orthologous to human KY (kyphoscoliosis peptidase). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular. [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
