| Primary Identifier | MGI:1315195 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 14791 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; rRNA (pseudouridine) methyltransferase activity; and rRNA binding activity. Acts upstream of or within blastocyst development and nucleologenesis. Predicted to be located in chromosome; nucleolus; and nucleoplasm. Predicted to be part of small-subunit processome. Predicted to be active in nucleus. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system; and integumental system. Used to study Bowen-Conradi syndrome. Human ortholog(s) of this gene implicated in Bowen-Conradi syndrome. Orthologous to human EMG1 (EMG1 N1-specific pseudouridine methyltransferase). PHENOTYPE: Mice homozygous for a reporter allele fail to form blastocele and die after E3.5. Mice homozygous for another allele exhibit lethality between E8.5 and E12.5, growth retardation, defective enural tube closure, increased cell apoptosis and decreased cell proliferation. [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
