| Primary Identifier | MGI:1343461 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 13599 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables metalloendopeptidase activity. Involved in respiratory system process. Predicted to be active in plasma membrane. Is expressed in cap mesenchyme; central nervous system; and retina. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in distal arthrogryposis type 5D. Orthologous to human ECEL1 (endothelin converting enzyme like 1). PHENOTYPE: Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation. [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
