Primary Identifier | MGI:1919055 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 71805 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be a structural constituent of nuclear pore. Involved in positive regulation of SMAD protein signal transduction. Located in centrosome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 12. Orthologous to human NUP93 (nucleoporin 93). PHENOTYPE: Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation. In vitro outgrowth assays show that blastocysts hatch from the zona pellucida but form irregular outgrowths with no inner cell mass colony or trophoblast giant cells after 3 days in culture. [provided by MGI curators] |