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Figure 3 | BMC Developmental Biology

Figure 3

From: Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass

Figure 3

Positional cloning of dumbo. (A) Genetic mapping of dmbo. The left panel depicts the phenotypes ("+" = normal; "M" = mutant) and genotypes of 100 animals at the indicated loci (an "M" prefix = D5Mit; "J" = D5Jcs) produced from intercrosses of dmbo/+CASTmice. The right panel shows the locations of critical molecular markers on proximal Chr 5 (centromere on top), the locations of two deletions used for complementation analyses, and the location to which dmbo was mapped based on the combination of meiotic and deletion mapping. (B) Identification of a point mutation in the dmbo allele of Hmx1. Sequence traces are shown. (C) Hmx1 genomic structure and predicted protein products of wild type and mutant alleles. As indicated, the dmbo mutation causes premature termination of HMX1, whereas the mpe mutation potentially encodes 226 amino acids of the 332 amino acid HMX1 protein, but the frameshift appends 171 unrelated aa residues.

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