| Primary Identifier | MGI:97292 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 17996 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to act upstream of or within regulation of actin filament length and sarcomere organization. Located in Z disc. Is expressed in cardiac muscle tissue; heart; hindlimb muscle; palatal shelf; and trunk dermomyotome. Used to study nemaline myopathy 2. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-6 and nemaline myopathy 2. Orthologous to human NEB (nebulin). PHENOTYPE: Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. [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
