| Primary Identifier | MGI:2179381 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 192159 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity; pre-mRNA intronic binding activity; and snRNA binding activity. Predicted to be involved in cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; and spliceosomal tri-snRNP complex assembly. Predicted to be located in nucleus. Predicted to be part of U2-type spliceosomal complex and spliceosomal snRNP complex. Is expressed in several structures, including central nervous system; gonad; gut; sensory organ; and spleen. Used to study retinitis pigmentosa 13. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 13. Orthologous to human PRPF8 (pre-mRNA processing factor 8). PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [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
