Primary Identifier | MGI:1891217 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 94187 |
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. Involved in several processes, including brown fat cell differentiation; negative regulation of cold-induced thermogenesis; and positive regulation of BMP signaling pathway. Acts upstream of or within several processes, including cerebellar granule cell precursor proliferation; protein localization to cilium; and smoothened signaling pathway. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; genitourinary system; and sensory organ. Used to study Dandy-Walker syndrome and cerebellar disease. Human ortholog(s) of this gene implicated in nephronophthisis 14. Orthologous to human ZNF423 (zinc finger protein 423). PHENOTYPE: Mutations in this gene lead to postnatal lethality, abnormal gait, ataxia, reduced body size, loss of the corpus callosum, reduction of the hippocampus, olfactory bulb defects, and variable malformation of the cerebellum, including vermis agenesis, due to reduced proliferation of neural precursors. [provided by MGI curators] |