| Primary Identifier | MGI:1923097 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 75847 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Acts upstream of or within axon guidance and protein glycosylation. Predicted to be active in cytosol. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2U. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2U and congenital muscular dystrophy-dystroglycanopathy A7. Orthologous to human CRPPA (CDP-L-ribitol pyrophosphorylase A). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias. [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
