Figure 6

A point mutation in Baz1b correlates with the MommeD10^-/- phenotype. (a) A single base-pair mutation was detected in exon 7 of Baz1b. Representative chromatograms from one wild type, one heterozygote and one homozygote are shown. This results in a non-conservative amino acid change, L733R. (b) The MommeD10 point mutation (arrow) modifies an amino acid highly conserved across species (Hs, Homo sapiens; Mm, Mus musculus; Xl, Xenopus laevis; Gg, Gallus gallus; Dr, Danio rerio). (c) Whole-cell lysates from four 14.5 dpc heads of each genotype were probed with anti-Baz1b. Anti-γ-tubulin was used as a loading control. Quantification of Baz1b relative to γ-tubulin shows negligible levels of Baz1b in MommeD10^-/- mice. A representative western blot is shown. (d) Expression analysis by quantitative real-time RT-PCR was performed on mRNA prepared from 14.5 dpc heads. Levels of Baz1b mRNA were not affected by the mutation. Analysis was performed on three individuals of each genotype and normalized to two house-keeping genes. Error bars in all graphs represent SEM.