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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Nonhuman primate genetic models for the study of rare diseases

Fig. 2

The development of a nonhuman primate model of Krabbe disease. A Among other pathogenic mutations, a deletion in humans eliminates the 3’ region of GALC, in rhesus macaques a 2 base pair deletion in exon 4 creates a frameshift and truncated protein in much the same manner. Wild-type initiation and termination positions are shown to the left of the exon model while causative mutations resulting in truncated transcripts are shown to the right. B A pedigree focused on the initial affected individuals (solid gray) identified carriers (half-gray) of the causative genetic mutation. Figure created with BioRender.com

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