Hoxb-4 (Hox-2.6) mutant mice show homeotic transformation of a cervical vertebra and defects in the closure of the sternal rudiments

Abstract

Two Hoxb-4 (Hox-2.6) mutations were introduced into the mouse germline. The overt phenotype caused by one of the mutations was assayed on two different genetic backgrounds, an inbred 129SvEv and a hybrid 129SvEv-C57BL/6J. The allele hoxb-4' is a disruption of the first exon and causes two obvious skeletal changes: a partial homeotic transformation of the second cervical vertebra from axis to atlas and a defective morphogenesis of the sternum. Both phenotypes have incomplete penetrance and variable expressivity when assayed in the hybrid genetic background, but the sternum defect is completely penetrant in the inbred background. The mutant allele hoxb-4s has a premature stop codon, introduced by the "hit and run" method in the second exon, that disrupts the third helix of the homeodomain. This allele also causes the partial homeotic transformation of axis to atlas, but it does not affect the sternum.