| Primary Identifier | MGI:2444748 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 320790 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and promoter-specific chromatin binding activity. Acts upstream of or within several processes, including circulatory system development; embryonic morphogenesis; and nervous system development. Located in nucleus. Is expressed in several structures, including alimentary system; embryo mesenchyme; lung; nervous system; and sensory organ. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in CHARGE syndrome and hypogonadotropic hypogonadism 5 with or without anosmia. Orthologous to human CHD7 (chromodomain helicase DNA binding protein 7). PHENOTYPE: Heterozygotes for mutations of this gene show a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, tail-kink and reproductive system anomalies. Heterozygotes for a null allele show mild cerebellar hypoplasia and distinct cerebellar foliation anomalies. [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
