Figure 7. The schlei mutant phenotype results from a point mutation in Tmem107.

(A) Schematic representation of Tmem107 protein, which is predicted to contain four transmembrane domains. Asterisk and red shading, location of the E125G missense mutation in schlei allele. Complementation analysis was carried out by crossing Tmem107^tm1Lex males with schlei females. At e10.5, transheterozygous embryos demonstrated that Tmem107^tm1Lex fails to complement schlei in anteroposterior limb patterning, as shown by preaxial polydactyly (asterisk) visible at e13.5 (B,D) and floorplate (FP) formation, as shown by staining for Shh (C,E). These phenotypes are also recapitulated in embryos homozygous for the Tmem107^tm1Lex mutant allele (F,G). Blue staining in (C,E,G) = DAPI. N = notochord. Brackets in E,G indicate loss of floorplate. Control, transheterozygotes, and homozygous mutant images are shown at the same magnification.