| Primary Identifier | MGI:1927616 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 83925 |
| 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 repressor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein domain specific binding activity. Involved in hair follicle development and regulation of chondrocyte differentiation. Acts upstream of or within several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; chondrocyte differentiation; and positive regulation of extrinsic apoptotic signaling pathway via death domain receptors. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and skin. Used to study trichorhinophalangeal syndrome type I. Human ortholog(s) of this gene implicated in osteochondrodysplasia; trichorhinophalangeal syndrome type I; and trichorhinophalangeal syndrome type III. Orthologous to human TRPS1 (transcriptional repressor GATA binding 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit absent vibrissae, craniofacial anomalies, cleft palate, thoracic spine and rib defects, and neonatal lethality due to respiratory failure. Mice homozygous for a reporter allele show additional defects in chondrocyte proliferation and apoptosis as well as reduced nephron formation. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
