Primary Identifier | MGI:3040955 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 234219 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including brain; future midbrain; genitourinary system; mandible; and nose. Orthologous to human HELT (helt bHLH transcription factor). PHENOTYPE: Mice homozygous for a null allele show loss of GABAergic neurons in the superior colliculus, limb cramping, seizures, impaired suckling, reduced growth and death between 2 and 5 wks of age. Mice homozygous for a reporter allele show loss of GABAergic neurons and increased glutamatergic generation. [provided by MGI curators] |