Primary Identifier | MGI:97451 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 18424 |
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. Involved in positive regulation of DNA-templated transcription; positive regulation of gastrulation; and primitive streak formation. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; nervous system development; and regionalization. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; early conceptus; ectoderm; and sensory organ. Human ortholog(s) of this gene implicated in combined pituitary hormone deficiency and syndromic microphthalmia 5. Orthologous to human OTX2 (orthodenticle homeobox 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis due to abnormal gastrulation and embryonic patterning in the brain and heart. Mice heterozygous for another knock-out allele exhibit female-specific lethality, reduced male fertility and abnormal gonadotrophs. [provided by MGI curators] |