
Ramirez-Solis R, Zheng H, Whiting J, Krumlauf R, Bradley A:
Hoxb-4 (Hox-2.6) mutant mice show homeotic transformation of a
cervical vertebra and defects in the closure of the sternal
rudiments.
Cell 1993 Apr 23;73(2):279-94
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.