| Primary Identifier | MGI:2385045 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 224640 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable chromatin DNA binding activity. Involved in heart formation; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and neurogenesis. Acts upstream of or within negative regulation of MAPK cascade and skeletal muscle cell differentiation. Located in nuclear membrane. Is expressed in several structures, including heart; leg muscle; liver; nephric duct; and neural tube. Used to study cardiomyopathy. Human ortholog(s) of this gene implicated in cataract 46 juvenile-onset. Orthologous to human LEMD2 (LEM domain nuclear envelope protein 2). PHENOTYPE: Homozygotes for a gene-trapped allele die by E11.5 exhibiting reduced embryo size and cell density in neural tissue and mesenchyme, underdeveloped cardiac and neural tissue, and hyperactivation of MAPK and AKT signaling. Heterozygotes show a modest delayin cardiotoxin-induced muscle regeneration. [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
