NHGRI/DIR Zebrafish Core

National Human Genome Research Institute

Investigators

Linked publications & trials

Abstract

In FY2025, the Core staff provided services to nine NHGRI and five non-NHGRI investigators as described below. 1.Completed generation of KO fish for nine genes (Brody, Venditti, Shchelochkov, Tanner and Rosenzweig labs). 2.Completed generation of KI fish lines with patient-specific point mutations in two genes (Shchelochkov and Puertollano labs) 3.Optimized use of prime editing for KI of point mutations and small insertions to achieve higher KI efficiency without the use of donor oligos. 4.Designed and injected pegRNAs to generate KI lines with loxp sites for conditional knockout of tgfb1a,and epitope tags in six4b and sox21a for proteomic analysis (Burgess lab). 5.Designed pegRNAs to generate KI fish with patient-specific point mutation in PCCB gene (Venditti lab). 6.Completed collection of h3f3a KI heterozygous fish at various ages (from 3 weeks -6 months) by repeatedly breeding the single founder fish and genotyping the progeny at 10-15 dpf (Ferreira lab). 7.Completed evaluation of DHX15 variants observed in patients with developmental delay phenotype (Sood lab). 8.Performed microinjections of tumor cells for xenotransplantation assays (Tanner, Gottesman and Puertollano labs). 9.Performed microinjections of pooled sgRNAs to conserved non-coding elements (Burgess lab). 10.Performed microinjections of chemicals for luminescence reporter assay to assess the integrity of blood brain barrier (Gottesman lab). 11.Assisted in generating and preparing cd41-GFP; gata1-DsRed positive embryos from fanca and adh5 mutants for FACS sorting to perform scRNA-Seq experiments (Chandrasekharappa lab). 12.Performed kidney dissections and immunohistochemistry with yH2AX antibody to evaluate the role of runx1 and fancd2 in DNA damage repair (Liu lab). 13.Performed tissue extractions from WT and gba1 mutant fish for RNA-Seq experiments (Sidransky lab). 14.Colony management of >35 WT, mutant and transgenic lines for line maintenance, cryopreservation, and submission to ZIRC and/or collaborators (All users). 15.Processed >53,000 samples for genotyping and sequencing (All users). 16.Provided training on microinjections, tissue dissections, xenotransplantation and genotyping to new users (Gottesman, Puertollano and Tanner labs)