Primary Identifier | MGI:104621 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 216285 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity and sequence-specific DNA binding activity. Acts upstream of or within several processes, including embryonic morphogenesis; mesenchymal cell development; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including branchial arch; embryo mesenchyme; genitourinary system; limb primordium; and nose. Used to study frontonasal dysplasia 3. Human ortholog(s) of this gene implicated in frontonasal dysplasia 3. Orthologous to human ALX1 (ALX homeobox 1). PHENOTYPE: Homozygotes for a null allele show cranial neural tube and forebrain mesenchyme defects leading to acrania, meroanencephaly, and neonatal lethality. Homozygotes for another null allele die neonatally and display eye morphogenesis defects and craniofacial abnormalities, including frontonasal malformations, notching of the upper lip and cleft palate. [provided by MGI curators] |