Phenotypes Associated with This Genotype

Genotype
MGI:4437579

• Allelic Composition: kkt/kkt⁺; Pax1^un/Pax1⁺
• Genetic Background: involves: C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

skeleton

skeleton phenotype ( J:60410 )

N • newborns exhibit a normal sternum; no fusion of the fourth and fifth sternebrae is observed, unlike in kkt or Pax1^un homozygotes

small acromion ( J:60410 )

• newborns exhibit a severe reduction in the acromion of the scapula

abnormal axial skeleton morphology ( J:60410 )

• newborns display skeletal defects similar to those observed in Pax1^un homozygotes, but milder than in kkt homozygotes, except for the split vertebral body seen in multiple vertebrae between L2 and L5

abnormal thoracic vertebrae morphology ( J:60410 )

• all newborns exhibit bilateral ossification centers in the lower thoracic vertebrae; however, the ossification centers are not fused to the pedicles, unlike in kkt homozygotes

abnormal lumbar vertebrae morphology ( J:60410 )

• all newborns exhibit bilateral ossification centers in the lumbar vertebrae

• ossification centers are only fused to the pedicles in the lower lumbar region

• a split vertebral body is observed in multiple vertebrae between L2 and L5, and this is far more severe than in either kkt or Pax1^un homozygotes

• however, the transverse processes in L6 are all pointing forward, similar to those in wild-type control neonates

abnormal vertebral body morphology ( J:60410 )

• a split vertebral body is observed in L3, L4, and L5