| Primary Identifier | MGI:95489 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14118 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables hormone activity. Involved in several processes, including maintenance of protein location in extracellular region; negative regulation of cell differentiation; and positive regulation of appetite. Acts upstream of or within gene expression and lung alveolus development. Located in collagen-containing extracellular matrix and microfibril. Is active in extracellular space. Is expressed in several structures, including cardiovascular system; connective tissue; eye; genitourinary system; and respiratory system. Used to study Marfan syndrome; Weill-Marchesani syndrome; heart disease; pulmonary emphysema; and systemic scleroderma. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1). PHENOTYPE: Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema. Mice heterozygous for a knock-in allele exhibit scleroderma. [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
