| Primary Identifier | MGI:2138968 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 98985 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity. Involved in cerebellar cortex development. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of tRNA-intron endonuclease complex. Predicted to be active in nucleus. Is expressed in brain; genitourinary system; hemolymphoid system; and liver lobe. Used to study pontocerebellar hypoplasia type 10. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 10. Orthologous to human CLP1 (cleavage factor polyribonucleotide kinase subunit 1). PHENOTYPE: Mice homozygous for a kinase dead allele exhibit background sensitive lethality, motor neuron degeneration, defects in diaphragm innervation, progressive muscle weakness and impaired pre-tRNA processing. Mice homozygous for a globally targeted allele exhibit complete embryonic lethality. [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
