| Primary Identifier | MGI:2147834 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 102857 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables creatine:sodium symporter activity. Predicted to be involved in amino acid transport; protein catabolic process; and sodium ion transmembrane transport. Predicted to act upstream of or within creatine transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be active in glutamatergic synapse and postsynaptic membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study cerebral creatine deficiency syndrome 1. Human ortholog(s) of this gene implicated in cerebral creatine deficiency syndrome 1 and intellectual disability. Orthologous to human SLC6A8 (solute carrier family 6 member 8). PHENOTYPE: Male mice hemizygous for a targeted allele exhibit decreased body weight, decreased creatine concentrations, impaired short term object recognition, impaired contextual conditioning, altered locomotor activity, and increased serotonine levels in the brain. [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
