Primary Identifier | MGI:109632 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 19434 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including camera-type eye development; hypothalamus development; and limb development. Predicted to be located in nucleus. Is expressed in several structures, including eye; genitourinary system; hemolymphoid system; nervous system; and neural ectoderm. Human ortholog(s) of this gene implicated in isolated microphthalmia 3. Orthologous to human RAX (retina and anterior neural fold homeobox). PHENOTYPE: Homozygous null mutants die neonatally with severe brain defects including absence of forebrain/midbrain structures and fail to form eye structures. Homozygous hypomorph mutants are viable, but lack eyes and optic tracts and have hypothalamic defects. [provided by MGI curators] |