| Primary Identifier | MGI:1096877 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13389 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable Notch binding activity. Involved in skeletal system development. Acts upstream of or within anterior/posterior pattern specification; negative regulation of neurogenesis; and paraxial mesoderm development. Located in plasma membrane. Is expressed in several structures, including blastocyst; central nervous system; future brain; paraxial mesenchyme; and sensory organ. Used to study spondylocostal dysostosis. Human ortholog(s) of this gene implicated in dysostosis and spondylocostal dysostosis 1. Orthologous to human DLL3 (delta like canonical Notch ligand 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects. [provided by MGI curators] |