| Primary Identifier | MGI:1336213 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 109272 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable myosin binding activity. Predicted to be involved in sarcomere organization. Predicted to act upstream of or within muscle contraction. Predicted to be located in cytoskeleton. Predicted to be active in M band. Is expressed in several structures, including brain; hindlimb; reproductive system; skeletal musculature; and urinary system. Used to study congenital myopathy. Human ortholog(s) of this gene implicated in congenital myopathy 16; distal arthrogryposis type 1B; and lethal congenital contracture syndrome 4. Orthologous to human MYBPC1 (myosin binding protein C1). PHENOTYPE: Mice homozygous for a point mutation exhibit tremors and neonatal lethality. Mice heterozygous for the allele exhibit tremors, decreased muscle mass, decreased body size, decreased strength, myogenic tremor, kyphoisis, and sarcomeric dysregulation. [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
