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Fig. 2. Distribution and frequency of skeletal malformations. Percentage of observed malformations along the vertebral column in transgenic msd::Dll1dn19 and mutant Dll1lacZ mice. Heterozygous Dll1lacZ mice (C) show a low frequency of all four types of malformations analysed. In hemizygous msd::Dll1dn mice (A) most prominent phenotypes are split vertebral bodies in the cervical and lumbar region, missing or reduced pedicles mainly found in the central thoracic region as well as fusions or reductions of laminae. Increasing the dose of Dll1dn in homozygotes (B) as well as reducing endogenous Dll1 levels in double heterozygous msd::Dll1dn/Dll1lacZ mice (D) increased expressivity and penetrance of all phenotypes. Wild-type control animals (n=11) did not show any of the defects observed in transgenic or mutant mice (data not shown). n, number of analysed animals.





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