| 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 7.1.0) Enables metalloendopeptidase activity. Involved in respiratory system process. Predicted to be located in membrane. 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
