Ectopic expression of Hox-2.3 induces craniofacial and skeletal malformations in transgenic mice

Mech Dev. 1992 Nov;39(1-2):3-16. doi: 10.1016/0925-4773(92)90021-b.


To better understand the role of the Hox-2.3 murine homeobox gene during development, a dominant gain-of-function mutation was generated. The developmental malformations that resulted when the chicken beta-actin promoter was used to direct widespread expression of the Hox-2.3 gene in transgenic mice included early postnatal death as well as craniofacial abnormalities, including open eyes and cleft palate. Ventricular septal defects were also observed in the hearts of three transgenic mice. Skeletal malformations were seen in the bones of the craniocervical transition, with the occipital, basisphenoid, and atlas bones deficient or misshapen. Interestingly, one mutant exhibited an extra pair of ribs as well as alterations in cervical vertebrae identities. Some of the malformations observed in Hox-2.3 gain-of-function mutants overlap with those seen in Hox-1.1 and Hox-2.2 misexpression mutants which suggests functional similarities between paralogous homeobox genes. The results of these experiments are consistent with a role for Hox-2.3 in specifying positional information during development.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Actins / genetics
  • Animals
  • Animals, Newborn
  • Bone and Bones / abnormalities*
  • Bone and Bones / embryology
  • Cleft Palate / embryology
  • Cleft Palate / genetics*
  • Embryonic and Fetal Development / genetics
  • Eye Abnormalities / embryology
  • Eye Abnormalities / genetics*
  • Female
  • Gene Expression Regulation*
  • Genes, Homeobox*
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Transgenic / embryology*
  • Phenotype
  • Promoter Regions, Genetic
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / toxicity*


  • Actins
  • Recombinant Fusion Proteins