DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages

Development. 1998 Jan;125(1):21-31.


DeltaEF1 is a DNA binding protein containing a homeodomain and two zinc finger clusters, and is regarded as a vertebrate homologue of zfh-1 (zinc finger homeodomain-containing factor-1) in Drosophila. In the developing embryo, deltaEF1 is expressed in the notochord, somites, limb, neural crest derivatives and a few restricted sites of the brain and spinal cord. To elucidate the regulatory function of deltaEF1 in mouse embryogenesis, we generated deltaEF1 null mutant (deltaEF1null(lacZ)) mice. The deltaEF1null(lacZ) homozygotes developed to term, but never survived postnatally. In addition to severe T cell deficiency of the thymus, the deltaEF1null(lacZ) homozygotes exhibited skeletal defects of various lineages. (1) Craniofacial abnormalities of neural crest origin: cleft palate, hyperplasia of Meckel's cartilage, dysplasia of nasal septum and shortened mandible. (2) Limb defects: shortening and broadening of long bones, fusion of carpal/tarsal bone and fusion of joints. (3) Fusion of ribs. (4) Sternum defects: split and asymmetric ossification pattern of the sternebrae associated with irregular sternocostal junctions. (5) Hypoplasia of intervertebral discs. These results indicate that deltaEF1 has an essential role in regulating development of these skeletal structures. Since the skeletal defects were not observed in deltaEF1deltaC727 mice, deltaEF1 bears distinct regulatory activities which are dependent on different domains of the molecule.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / embryology
  • Animals
  • Body Patterning*
  • Bone and Bones / abnormalities
  • Bone and Bones / embryology*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology*
  • Embryonic and Fetal Development
  • Gene Expression Regulation, Developmental
  • Gene Targeting
  • Genes, Homeobox
  • Histocytochemistry
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology
  • Homozygote
  • In Situ Hybridization
  • Mice
  • Mice, Knockout
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / physiology*
  • Phenotype
  • Thymus Gland / embryology
  • Transcription Factors / genetics
  • Transcription Factors / physiology
  • Zinc Fingers / genetics


  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • Transcription Factors
  • Zfhx1a protein, mouse