Primary Identifier | MGI:1353500 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 110805 |
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 factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in cranial skeletal system development and roof of mouth development. Acts upstream of or within several processes, including hair follicle morphogenesis; thyroid gland development; and thyroid hormone generation. Predicted to be located in nucleus. Is expressed in several structures, including alimentary system; brain; branchial pouch endoderm; head surface ectoderm; and outflow tract. Used to study Bamforth-Lazarus syndrome and congenital hypothyroidism. Human ortholog(s) of this gene implicated in Bamforth-Lazarus syndrome and papillary thyroid carcinoma. Orthologous to human FOXE1 (forkhead box E1). PHENOTYPE: Homozygous null mice die within 48 hours of birth exhibiting cleft palate and a sublingual or absent thyroid gland due to thyroid dysgenesis at the stage of endodermal bud migration. Mutant skin grafts display thin, sparse and kinky pelage hairs due to defects in late hair follicle morphogenesis. [provided by MGI curators] |