| Primary Identifier | MGI:108117 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 13726 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin binding activity and beta-tubulin binding activity. Acts upstream of or within skeletal muscle cell differentiation. Located in TMEM240-body and nuclear membrane. Is expressed in musculature; skin; submandibular gland primordium; telencephalon ventricular layer; and thymus primordium. Human ortholog(s) of this gene implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy. Orthologous to human EMD (emerin). PHENOTYPE: Mice homozygous for disruptions in this gene are generally indistiguishable from controls. However, lack of muscular coordination is reported for one allele along with development of vacuoles associated with the nuclear membrane of cardiac and skeletal muscle. [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
