| Primary Identifier | MGI:1277201 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 12817 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Involved in endochondral ossification and morphogenesis of a branching structure. Located in cell-cell junction. Is expressed in several structures, including central nervous system; genitourinary system; heart and pericardium; jaw; and musculoskeletal system. Used to study congenital myasthenic syndrome 19. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 19. Orthologous to human COL13A1 (collagen type XIII alpha 1 chain). PHENOTYPE: Mice homozygous for an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential. [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
