| Primary Identifier | MGI:1097716 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 11878 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including forebrain development; lipid digestion; and positive regulation of organ growth. Predicted to be located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and musculature. Used to study early infantile epileptic encephalopathy; lissencephaly; and syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in X-linked lissencephaly 2; X-linked recessive disease (multiple); corpus callosum agenesis-abnormal genitalia syndrome; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ARX (aristaless related homeobox). PHENOTYPE: Males hemizygous for targeted null mutations die perinatally. Male mice hemizygous for various alleles with point mutations or triple repeat expansion exhibit defective GABAergic neuron migration and numbers, seizures, and/or behavioral defects. [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
