Primary Identifier | MGI:2444218 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230793 |
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 factor activity and promoter-enhancer loop anchoring activity. Involved in mesoderm formation and skin morphogenesis. Predicted to be located in chromosome. Predicted to be active in nucleus. Is expressed in brain; embryo; and limb. Used to study Xia-Gibbs Syndrome. Human ortholog(s) of this gene implicated in Xia-Gibbs Syndrome. Orthologous to human AHDC1 (AT-hook DNA binding motif containing 1). PHENOTYPE: Mosaic mice with CRISPR cutting on at least one allele exhibit developmental patterning defects affecting craniofacial structure, abdominal wall closure and epidermal stratification that mirror phenotypes seen in Xia-Gibbs syndrome. [provided by MGI curators] |