Figure 4
Overview of murine and human hotfoot mutants. Structure of the GRID2 gene; boxes represent exons, connecting lines introns. Colored boxes represent the exons encoding the leucine/isoleucine/valine binding protein–like domain of the protein. Horizontal bars represent GRID2 deletions in mice and humans, depicted in the upper and lower parts, respectively. Corresponding deletions between humans and mice are colored. The red bars represent a homozygous deletion of exon 2, found in ho15J mice, in the patients described by Hills et al.5 as a compound heterozygous deletion, and our proband. The blue bars represent a homozygous deletion removing both exons 3 and 4, as described in ho8/13J and tpr mice and the patients reported by Utine et al.4 The human deletion of exon 1 is a heterozygous deletion, reported by Maier et al.6
