| Primary Identifier | MGI:1330818 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 104009 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable FAD binding activity; flavin-dependent sulfhydryl oxidase activity; and protein disulfide isomerase activity. Predicted to be involved in extracellular matrix assembly; negative regulation of macroautophagy; and protein folding. Located in extracellular space. Is expressed in several structures, including alimentary system; cardiovascular system; nervous system; respiratory system; and skin. Used to study VACTERL association. Orthologous to human QSOX1 (quiescin sulfhydryl oxidase 1). PHENOTYPE: Homozygotes for an ENU-induced mutation show cardiovascular phenotypes including persistent truncus arteriosus, atriventricular septal defects and vascular ring, as well as eye defects, short snout, micrognathia, cleft palate, tracheosophageal fistula, polydactyly and spleen hypoplasia. [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
