NHGRI/DIR Zebrafish Core

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

In FY2021, the Core was used by 12 investigators from eight NHGRI branches for a variety of projects as described below. Generation of Knockout mutant zebrafish lines for 13 genes: 10 completed, 3 in progress Generation of Knockin mutant zebrafish lines with epitope tags in 3 genes: 1 completed, 2 in progress Generation of Knockin fish with a point mutation in GBA to understand the pathophysiology of oculomotor defects in Gaucher disease patients with a specific mutation. Phenotyping in collaboration with Brooks lab in progress (Sidransky). Generation of two transgenic lines for lineage tracing in hematopoietic cells Phenotypic characterization of knockout fish for 15 genes involved in hearing, hematopoiesis and Gaucher disease by hair cell regeneration assay, TUNEL staining, WISH, imaging, tissue extractions and histology Genotyping and establishment of 5 uba1 knockout mutant lines. Injections with WT mRNAs to establish a dose for evaluation of variants of unknown significance detected in patients with VEXAS syndrome Cryopreservation of 15 new mutant lines. Maintenance of >25 lines (WT, mutant and transgenics) by breeding and genotyping. Technology development by testing various knockin approaches. To generate above-mentioned mutant lines and perform phenotypic characterization, we processed 47,000 DNA samples for genotyping by fluorescent PCR using our capillary electrophoresis method and and performed 5,000 sequencing reactions.