| Primary Identifier | MGI:2449316 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 319565 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin binding activity. Involved in several processes, including centrosome localization; nuclear migration; and regulation of cilium assembly. Located in Z disc and nuclear outer membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2). PHENOTYPE: Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for spontaneous mutations exhibit early retinal defects in photoreceptors, secondary neurons, and muller glia. [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
