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Fig. 1. Transgene expression and phenotypic outcome. (A) Schematic representation
of the wild-type and truncated Dll1 proteins, and structure of the
msd::Dll1dn transgene. In Dll1dn all but 12 amino acids
of the intracellular domain proximal to the transmembrane domain have been
removed. For details of the construction of msd::Dll1dn see
Materials and methods. (B) Expression of msd::Dll1dn in a
homozygous day 9.5 transgenic msd::Dll1dn line 19 (b) and wild-type
control (a) embryo visualized by whole-mount in situ hybridisation with an
antisense probe specific for the SV40pA sequence. Transgene expression is
restricted to the posterior psm and recently formed somites. No expression is
detected in the anterior psm corresponding to somitomeres S-1 and S0; psm,
presomitic mesoderm. (C) External phenotypes and skeletal preparations of
3-week-old wild-type (a-e) and transgenic (f-v) mice. Dorsal (c,h,o,t) and
ventral (d,i,p,u) view of the cervical region, lateral view of the whole
vertebral column (b,g,n,s) and thoracic region after removal of the ribs
(e,j,q,v). Hemizygous transgenic mice (m-q) show kinky tails (m,n), reduced
laminae (black arrow in o), split vertebral bodies (white arrows in p) and
reduced or missing pedicles (asterisks in q). Expressivity and penetrance of
these defects are significantly increased and also fusions of laminae were
observed (arrowheads in h,t) in homozygous animals of independent transgenic
lines 13, 19 and 25 (f-l) and in hemizygous msd::Dll1dn line 19 mice that
carry only one functional copy of Dll1 (r-v).
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