| Primary Identifier | MGI:1278336 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 382253 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; protein kinase activity; and small GTPase binding activity. Acts upstream of or within protein localization to nucleus. Predicted to be located in several cellular components, including ciliary tip; microtubule organizing center; and ruffle membrane. Predicted to be active in several cellular components, including dendrite cytoplasm; glutamatergic synapse; and postsynaptic density, intracellular component. Is expressed in several structures, including brain; genitourinary system; liver; muscle tissue; and spleen. Used to study developmental and epileptic encephalopathy 2. Human ortholog(s) of this gene implicated in Rett syndrome; developmental and epileptic encephalopathy 2; and intellectual disability. Orthologous to human CDKL5 (cyclin dependent kinase like 5). PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit hyperactivity, impaired coordination, decreased anxiety-related response, limb grasping, social withdrawal, and impaired nesting, conditioned behavior learning and auditory-evoked event-related potentials. [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
