Identification of Zebrafish Carrying The zmym2 and zmym3 Mutant Alleles

Potocki Shaffer syndrome is a very rare disorder that occurs in humans. There are many side-effects of the disorder, but perhaps the most profound symptom is some form of craniofacial abnormality. Typical abnormalities in the skull structure are microcephaly, bracycephaly, and midfacial hypoplasia. These craniofacial abnormalities are caused by the haploinsufficiency of the PHF21A gene. This gene is similar to the zebrafish PHF21A ortholog. The research was done to create a generation of zebrafish that had the zmym2 or zmym3 mutant allele present. These two genes are known to be present in the phf21a complex where the PHF21A gene is located. This means that these two mutated alleles could be responsible for craniofacial abnormalities as well. This research was done by crossing zebrafish and then conducting a DNA extraction using their embryos. PCR was then used to amplify the DNA, and a T7E1 assay was run to see if the fish had the mutant allele. An F1 zebrafish carrying the zmym2 mutant allele was identified; however, an F1 zebrafish carrying the zmym3 mutant allele was not. This means that future research can create zebrafish that are heterozygous for the zmym2 mutant allele to see if there are any noticeable craniofacial abnormalities. If there are abnormalities, then this gene would be responsible for craniofacial development just as the PHF21A gene is