| Primary Identifier | MGI:1888986 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 53310 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables ubiquitin protein ligase binding activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within establishment of planar polarity and establishment or maintenance of epithelial cell apical/basal polarity. Located in several cellular components, including bicellular tight junction; glutamatergic synapse; and plasma membrane. Part of AMPA glutamate receptor complex. Is expressed in central nervous system and retina. Used to study non-syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 90. Orthologous to human DLG3 (discs large MAGUK scaffold protein 3). PHENOTYPE: Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning. [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
