Primary Identifier | MGI:1920918 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 73668 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Acts upstream of or within several processes, including central nervous system development; intraciliary retrograde transport; and regulation of signal transduction. Part of intraciliary transport particle A. Is expressed in central nervous system; embryo ectoderm; limb; and somite. Used to study cystic kidney disease. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 4 and nephronophthisis 12. Orthologous to human TTC21B (tetratricopeptide repeat domain 21B). PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. Mutant embryos exhibit several deformities including polydactyly, microphthalmia, irregular shape of the long bones, rib fusion and truncation, neural tube defects, and abnormal brain structure. [provided by MGI curators] |