| Primary Identifier | MGI:99918 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 17257 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including histone reader activity; nucleic acid binding activity; and promoter-specific chromatin binding activity. Involved in several processes, including associative learning; negative regulation of smooth muscle cell differentiation; and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including learning or memory; nervous system development; and regulation of gene expression. Located in cytosol; heterochromatin; and nucleus. Is expressed in several structures, including alimentary system; early conceptus; nervous system; paraxial mesenchyme; and sensory organ. Used to study Rett syndrome. Human ortholog(s) of this gene implicated in Rett syndrome; autistic disorder; gastrointestinal system disease; severe congenital encephalopathy due to MECP2 mutation; and syndromic X-linked intellectual disability (multiple). Orthologous to human MECP2 (methyl-CpG binding protein 2). PHENOTYPE: Female mice homozygous or male mice hemizygous for a null allele exhibit premature death, behavioral and neurological abnormalities, abnormal nervous system phenotypes, abnormal breathing, and abnormal hearing. Heterozygous mice exhibit similar behavioral and neurological abnormalities. [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
