Animal models of human disease: zebrafish swim into view

GJ Lieschke, PD Currie - Nature Reviews Genetics, 2007 - nature.com
Despite the pre-eminence of the mouse in modelling human disease, several aspects of
murine biology limit its routine use in large-scale genetic and therapeutic screening. Many …

Talking about a revolution: The impact of site-specific recombinases on genetic analyses in mice

CS Branda, SM Dymecki - Developmental cell, 2004 - cell.com
Site-specific recombinase systems (Cre-loxP, Flp-FRT, and φC31-att) are transforming both
forward and reverse genetics in mice. By enabling high-fidelity DNA modifications to be …

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

Y Li, NT Klena, GC Gabriel, X Liu, AJ Kim, K Lemke… - Nature, 2015 - nature.com
Congenital heart disease (CHD) is the most prevalent birth defect, affecting nearly 1% of live
births; the incidence of CHD is up to tenfold higher in human fetuses,. A genetic contribution …

Comparison of T7E1 and surveyor mismatch cleavage assays to detect mutations triggered by engineered nucleases

L Vouillot, A Thélie, N Pollet - G3: Genes, Genomes, Genetics, 2015 - academic.oup.com
Genome editing using engineered nucleases is used for targeted mutagenesis. But because
genome editing does not target all loci with similar efficiencies, the mutation hit-rate at a …

Behavioral phenotypes of Disc1 missense mutations in mice

SJ Clapcote, TV Lipina, JK Millar, S Mackie, S Christie… - Neuron, 2007 - cell.com
To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two
independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with …

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

P Fratta, P Sivakumar, J Humphrey, K Lo… - The EMBO …, 2018 - embopress.org
TDP‐43 (encoded by the gene TARDBP) is an RNA binding protein central to the
pathogenesis of amyotrophic lateral sclerosis (ALS). However, how TARDBP mutations …

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

JZ Liu, MA Almarri, DJ Gaffney, GF Mells, L Jostins… - Nature …, 2012 - nature.com
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium
and 8,514 UK population controls across 196,524 variants within 186 known autoimmune …

Efficient target-selected mutagenesis in zebrafish

E Wienholds, F van Eeden, M Kosters, J Mudde… - Genome …, 2003 - genome.cshlp.org
One of the most powerful methods available to assign function to a gene is to inactivate or
knockout the gene. Recently, we described the first target-selected knockout in zebrafish …

Target-Selected Inactivation of the Zebrafish rag1 Gene

E Wienholds, S Schulte-Merker, B Walderich… - Science, 2002 - science.org
The zebrafish has become a favorite organism for genetic analysis of vertebrate
development, but methods for generating mutants by reverse genetic approaches have …

Strategies for mapping and cloning quantitative trait genes in rodents

J Flint, W Valdar, S Shifman, R Mott - Nature Reviews Genetics, 2005 - nature.com
Over the past 15 years, more than 2,000 quantitative trait loci (QTLs) have been identified in
crosses between inbred strains of mice and rats, but less than 1% have been characterized …