Primary Identifier | MGI:1352451 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 13865 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sequence-specific DNA binding activity. Acts upstream of or within nervous system development and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; gut; and sensory organ. Used to study Bosch-Boonstra-Schaaf optic atrophy syndrome. Human ortholog(s) of this gene implicated in Bosch-Boonstra-Schaaf optic atrophy syndrome. Orthologous to human NR2F1 (nuclear receptor subfamily 2 group F member 1). PHENOTYPE: Homozygotes for a null allele die perinatally with axon guidance defects in all forebrain commissures. Homozygotes for another null allele show neonatal death, impaired cranial ganglion IX formation and axon guidance, increased cochlear HC and support cell number, and altered cortex regionalization. [provided by MGI curators] |