Primary Identifier | MGI:106633 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 11859 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in oculomotor nerve formation and trochlear nerve formation. Acts upstream of or within nervous system development; regulation of respiratory gaseous exchange; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including adrenal gland; alimentary system; epibranchial placode; genitourinary system; and nervous system. Used to study type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in congenital fibrosis of the extraocular muscles 2. Orthologous to human PHOX2A (paired like homeobox 2A). PHENOTYPE: Homozygotes for targeted null mutations exhibit deficits in sensory and autonomic ganglia, lack of the locus coeruleus, and impaired migration of facial visceral motor axon. Mutants appear normal at birth but fail to nurse and die within 24 hours. [provided by MGI curators] |