Primary Identifier | MGI:1924337 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 77087 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein homodimerization activity. Acts upstream of or within several processes, including head morphogenesis; neural crest cell differentiation; and skeletal system development. Is active in chromatin. Is expressed in several structures, including cranium; forebrain; jaw; oral epithelium; and sensory organ. Used to study KBG syndrome. Human ortholog(s) of this gene implicated in KBG syndrome. Orthologous to human ANKRD11 (ankyrin repeat domain containing 11). PHENOTYPE: Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia. [provided by MGI curators] |