| Primary Identifier | MGI:2442875 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 240322 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metalloendopeptidase activity. Involved in aortic valve morphogenesis and collagen fibril organization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Is expressed in several structures, including cranium; heart; reproductive system; respiratory system; and sensory organ. Used to study aortic valve disease. Human ortholog(s) of this gene implicated in congenital heart disease. Orthologous to human ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19). PHENOTYPE: Homozygous null mice are viable and fertile but exhibit abnormal aortic flow and progressive aortic valve defects ranging from aortic regurgitation to severe aortic valve stenosis or a combination of both. [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
