... in the oocytes. We then mapped a suppressor candidate gene, lmbr-1 , which is an ortholog of human limb development membrane protein 1 ( LMBR1 ). The CRISPR/Cas9 edited lmbr-1 suppressor alleles, lmbr-1(S647F) and lmbr-1(P314L) , both significantly suppressed embryonic lethality and defective eggshell formation...

... hsc117 allele using CRISPR/Cas9 mutagenesis in zebrafish to determine the role of Pkd1l1 in biliary development and function. Wild-type and mutant larvae were assessed for laterality defects, biliary function and biliary tree architecture at 5 days post fertilization. pkd1l1 hsc117 mutant larvae...

... anomalies, diarrhea and thrombocytopenia, and suffered early demise from sepsis. Her consanguineous parents also had a previous child who died with similar clinical features. Using CRISPR/Cas9-mediated approaches, we demonstrate that loss of ARPC5 affects actin cytoskeleton organization and function...

...- CHST14 ). Here, we generated mouse models for mcEDS- CHST14 carrying homozygous mutations (1 bp deletion or 6 bp insertion/10 bp deletion) in Chst14 through CRISPR/Cas9 genome engineering to overcome perinatal lethality in conventional Chst14 -deleted knockout mice. DS depletion was detected...

... response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons. CHIP/STUB1 Cortical neurons CRISPR/Cas9 Heat shock response Induced pluripotent stem cells SCAR16 Bundesministerium für Bildung und Forschung 10.13039/501100002347 01GM1905A 01GM1907A...

...Yu Kang; Chu Chu; Fang Wang; Yuyu Niu ABSTRACT Owing to their high similarity to humans, non-human primates (NHPs) provide an exceedingly suitable model for the study of human disease. In this Review, we summarize the history of transgenic NHP models and the progress of CRISPR/Cas9-mediated genome...

... preclinical modelling of glioblastoma multiforme to understand its biology and develop therapies, with a focus on mammalian model systems. Central nervous system In vitro CRISPR/Cas9 Mouse Human Xenograft GBM Cancer Brain tumour Cancer Research UK 10.13039/501100000289 A19778...

... and function with organoids derived from human pluripotent stem cells. These have successfully recapitulated not only kidney differentiation, but also the specific phenotypical traits related to kidney function. The combination of this methodology with CRISPR/Cas9 genome editing has already helped researchers...

...Sergey V. Prykhozhij; Jason N. Berman ABSTRACT The zebrafish is an increasingly popular model organism for human genetic disease research. CRISPR/Cas9-based approaches are currently used for multiple gene-editing purposes in zebrafish, but few studies have developed reliable ways to introduce...

... missense mutations in their zebrafish orthologous genes by combining CRISPR/Cas9 with a short template oligonucleotide. Three of these lines carry gain-of-function mutations in genes encoding the pore-forming (Kir6.1, KCNJ8 ) and regulatory (SUR2, ABCC9 ) subunits of an ATP-sensitive potassium channel (K...

...Annekatrien Boel; Hanna De Saffel; Wouter Steyaert; Bert Callewaert; Anne De Paepe; Paul J. Coucke; Andy Willaert ABSTRACT Targeted genome editing by CRISPR/Cas9 is extremely well fitted to generate gene disruptions, although precise sequence replacement by CRISPR/Cas9-mediated homology-directed...

... regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 system (CRISPR/Cas9) was used to disrupt the ApoE gene in Bama miniature pigs. Biallelic-modified ApoE pigs with in-frame mutations ( ApoE m/m ) and frameshift mutations ( ApoE −/− ) were simultaneously produced. ApoE −/− pigs...

... atherosclerosis development in the NOD strain is of particular interest as human atherosclerosis on the diabetic and autoimmune background has not been successfully modeled. In this study, we used CRISPR/Cas9 genome editing to genetically disrupt apolipoprotein E (ApoE) and low-density lipoprotein receptor (LDLR...

... overseen by SAGE Labs, Alexion Pharmaceuticals and Northeastern University Institutional Animal Care and Use Committees. RNaseT2 KO rats were produced by SAGE Labs (now Horizon Discovery, St Louis, MO, USA) using CRISPR/Cas9-based technology. Briefly, single guide RNAs (sgRNAs) targeting the first...

...-terminus of fibrillin-1, the penultimate exon of the FBN1 gene. Here, we describe the generation of a rabbit MPL model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system. FBN1 heterozygous ( FBN1 Het) rabbits faithfully recapitulated the phenotypes of MFS, including muscle wasting...