An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression
J. Clin. Invest. Michael Niedermaier, et al. 115:900 doi:10.1172/JCI23675 [Go to this article.]

Figure 5
Shh expression in Dsh/+ limbs. (A) Section in situ hybridization at E13.5 and E14.5 showing strong expression of Shh in the developing distal digits in Dsh/+ but not in WT limbs. Note that expression is restricted to the anlagen of the phalanges (arrowheads). At E14.5, expression is strongest in the perichondrium of the proximal phalanx. (B) Pthlh is strongly overexpressed in Dsh/+ throughout the entire phalangeal anlagen, whereas it is restricted to the ends of the anlagen in the WT. Note overlap with Shh expression as shown in (A). (C) Expression of Ihh in WT metacarpals and phalanges (P). In contrast, Ihh is not expressed in the phalangeal anlagen of Dsh/+ limbs. (D) Immunohistochemistry with an antibody recognizing Hh protein shows restricted staining in prehypertrophic chondrocytes in the WT and Dsh/+ metacarpals and in WT phalanges corresponding to Ihh, but diffuse staining throughout the phalangeal anlagen in the mutant (large arrow) and in the perichondrium (PC) corresponding to Shh protein. (E and F) Quantitative RT-PCR of Shh (E) and Pthlh (F) mRNA in WT and Dsh/+ limbs at E10.5–E14.5. Bars represent levels (± SD) of Shh expression relative to WT E10.5 and Pthlh expression relative to WT E11.5. Magnification, ×50 (A–C), ×100 (D).