| Primary Identifier | MGI:87902 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11459 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity and hydrolase activity. Involved in skeletal muscle fiber development. Predicted to be located in several cellular components, including filopodium; lamellipodium; and sarcomere. Predicted to be part of protein-containing complex. Predicted to be active in actin filament; stress fiber; and striated muscle thin filament. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and limb. Used to study nemaline myopathy 3. Human ortholog(s) of this gene implicated in congenital myopathy 2B; congenital myopathy 2C; and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle). PHENOTYPE: Homozygous mutant animals die by postnatal day 10 and display reduced body weight/size, atrophy of brown adipose tissue, depleted glycogen stores of the liver and skeletal muscles, muscle weakness, and scoliosis. [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
