Dorsal Neural Tube Nuclear Protein (DNTNP)

DNTNP, the founding member of the Fam53 family of transcription factors, as a marker of the developing dorsal neural tube. It has recently been determined that Fam53 genes participate in the maintenance of stem cell pluripotency. Mice homozygous for the mutations either die in utero, or if they escape to be born, fail to thrive post-natally. A proportion of the Fam53A mutant mice display skeletal problems, such as polydactyly and incisor overgrowth, reminiscent of the phenotype of Bmp4 hypomorphic mice. The human Fam53A gene maps to 4p16.3, and is one of a small number of genes deleted in all full-blown cases of Wolf-Hirschhorn Syndrome (WHS). As pleiotrophic skeletal defects are a classic feature of WHS patients, it is clinically important to define the anatomical changes that are present in the Fam53A mutant mouse.