| Primary Identifier | MGI:101926 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 13395 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including BMP signaling pathway; endochondral ossification; and osteoblast differentiation. Acts upstream of or within several processes, including embryonic morphogenesis; neuron differentiation; and regulation of gene expression. Located in cytoplasm and nucleus. Part of chromatin. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; nervous system; and sensory organ. Used to study split hand-foot malformation 1. Human ortholog(s) of this gene implicated in split hand-foot malformation 1 and split hand-foot malformation 1 with sensorineural hearing loss. Orthologous to human DLX5 (distal-less homeobox 5). PHENOTYPE: Homozygous null mutants display multiple defects in craniofacial structures, including ears, nose, mandible and calvaria, and die shortly after birth, with some exhibiting exencephaly. [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
