| 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 9.1.0) 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 enteroendocrine cell differentiation and 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 active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; future brain; musculature; and reproductive system. 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
