| Primary Identifier | MGI:96794 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 16905 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) A structural constituent of cytoskeleton. Involved in several processes, including establishment or maintenance of microtubule cytoskeleton polarity; negative regulation of cardiac muscle hypertrophy in response to stress; and protein localization to nucleus. Acts upstream of or within several processes, including negative regulation of apoptotic signaling pathway; protein import into nucleus; and ventricular cardiac muscle cell development. Located in lamin filament and nuclear membrane. Is active in nuclear lamina. Is expressed in several structures, including embryo mesenchyme; epithelium; heart; immune system; and musculature. Used to study several diseases, including Charcot-Marie-Tooth disease type 2B1; achalasia; dilated cardiomyopathy 1A; muscular dystrophy (multiple); and progeria. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2B1; intrinsic cardiomyopathy (multiple); lipodystrophy (multiple); muscular dystrophy (multiple); and type 2 diabetes mellitus (multiple). Orthologous to human LMNA (lamin A/C). PHENOTYPE: Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, hyperkeratosis, and die by 8 weeks of age. Heterozygosity for an atypical progeria syndrome (APS) associated mutation leads to changes in fat distribution, and diet-induced weight gain, insulin resistance, glucose intolerance and hypercholesteremia. [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
