Primary Identifier | MGI:1270862 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 12006 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables I-SMAD binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including heart valve morphogenesis; negative regulation of canonical Wnt signaling pathway; and regulation of centromeric sister chromatid cohesion. Acts upstream of or within several processes, including negative regulation of osteoblast differentiation; negative regulation of osteoblast proliferation; and regionalization. Located in centrosome and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study craniosynostosis. Human ortholog(s) of this gene implicated in endometrial adenocarcinoma; gastrointestinal system cancer (multiple); lung cancer (multiple); and orofacial cleft. Orthologous to human AXIN2 (axin 2). PHENOTYPE: Homozygous mutant mice exhibit premature fusion of cranial sutures, enhanced expansion of osteoprogenitors, accelerated ossification, and increased osteoblast proliferation and differentiation. Mice homozygous for a null reporter allele exhibit coloboma and small lens. [provided by MGI curators] |