| 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 9.1.0) Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity. Predicted to contribute to second spliceosomal transesterification activity. Predicted to be involved in cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; and mRNA splicing, via spliceosome. Predicted to be located in nuclear speck. Predicted to be part of 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
