| Primary Identifier | MGI:95317 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 13717 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables extracellular matrix binding activity and extracellular matrix constituent conferring elasticity. Involved in aortic valve morphogenesis and extracellular matrix assembly. Acts upstream of or within several processes, including regulation of actin filament polymerization; skeletal muscle tissue development; and stress fiber assembly. Located in elastic fiber. Is expressed in several structures, including alimentary system; cardiovascular system; hindlimb; musculoskeletal system; and respiratory system. Used to study aortic valve disease; essential hypertension; and supravalvular aortic stenosis. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin). PHENOTYPE: Mice homozygous for null allele die in the early postnatal period of an obstructive arterial disease. They exhibit a decrease in arterial diameter due to subendothelial accumulation of arterial smooth muscle, and display defective terminal airway development resulting in emphysematous morphology. [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
