| Primary Identifier | MGI:1330233 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 21393 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including BMP binding activity; cytoskeletal protein binding activity; and titin Z domain binding activity. Predicted to be a structural constituent of muscle. Involved in adult heart development; otic vesicle formation; and somitogenesis. Located in Z disc. Is expressed in several structures, including heart; otocyst; and somite. Used to study autosomal recessive limb-girdle muscular dystrophy type 2G. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2G and hypertrophic cardiomyopathy 25. Orthologous to human TCAP (titin-cap). PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal muscle atrophy, myopathy, increased muscle stiffness, and impaired coordination. Mice homozygous for another knock-out allele exhibit increased response to transverse aortic constriction. [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
