Table 1

Summary of the phenotypes of CBP heterozygous mutants

AbnormalitiesC57BL/6-CBA × BALB/c cross C57BL/6-CBA × C57BL/6 cross
No. of wild-type fetusesNo. of heterozygous fetusesNo. of wild-type fetusesNo. of heterozygous fetuses
No. of litters106
No. of fetuses analyzed30212324
Severe growth retardation
 and delayed ossification0700
Large anterior frontanel11416
Asymmetric sternocostal
 joints1711
Abnormal ossification
 in sternum07a11
Distinct holes in
 xiphoid process16016
Abnormalities in axial bones02b,c03g,h
Rib abnormalities54d,e02
Limb abnormalities01f01i
  • In some cases (marked by superior letters), the following severe phenotypes were observed: 

  • a Reduced and asymmetric ossification, and a split in the sternum. 

  • b Asymmetric cervical vertebrae, extra and split thoracic vertebrae, and scoliosis. 

  • c Extra thoracic vertebra. 

  • d Asymmetric ribs; reduction or increase in the number of ribs. 

  • e Extra 14 ribs of complete type and fusion of ribs. 

  • f Oligodactyly. 

  • g Deficiency of right third cervical vertebra. 

  • h Split of corpus in first lumber vertebra. 

  • i Triphalangia.