Figure 4.

ENU(N-ethyl-N-nitrosourea) mutation in Lrp1 results in craniofacial abnormalities in mice. (A,B) A perinatal recessive ENU screen for novel genes involved craniofacial defects identified a mutant line with a c.Thr1019Cys transition in Lrp1 resulting in an p.F340S amino acid change, which disrupts the conserved YWTD motif in the extracellular domain. (C,D) Gross morphology of the ENU mutant, showing an abnormal head shape and short snout (arrow), smaller size, hemorrhage, and body wall abnormalities. (E,F) Coronal sections of E18.5 mutant and control heads showing cleft secondary palate in mutants. Arrowheads indicate unelevated palate shelves. (G,H) Alizarin red/alcian blue staining showing overall abnormal skull shape and markedly short mandible (arrow).