| Primary Identifier | MGI:1913961 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 66711 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable microtubule binding activity; rRNA binding activity; and ribosome binding activity. Acts upstream of or within inner cell mass cell proliferation. Predicted to be located in cytosol; nuclear lumen; and spindle pole. Is expressed in several structures, including gonad; gut; immune system; liver; and lung. Used to study Shwachman-Diamond syndrome. Human ortholog(s) of this gene implicated in Shwachman-Diamond syndrome and aplastic anemia. Orthologous to human SBDS (SBDS ribosome maturation factor). PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities. [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
