| Primary Identifier | MGI:2444169 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 320502 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin monomer binding activity and tropomyosin binding activity. Involved in skeletal muscle fiber development. Located in A band. Is expressed in several structures, including ganglia; limb segment; lung; sensory organ; and skeletal musculature. Used to study nemaline myopathy 10. Human ortholog(s) of this gene implicated in nemaline myopathy 10. Orthologous to human LMOD3 (leiomodin 3). PHENOTYPE: Mice homozygous for an endonuclease-mediated mutation are runted and exhibit nemaline myopathy including a reduction in skeletal myofiber size, centrally nucleated skeletal muscle fibers, increase in skeletal muscle glycogen levels, and abnormal sarcomere and Z lines. [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
