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Article
Open AccessImproving laboratory animal genetic reporting: LAG-R guidelines
The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized re...
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Article
Open AccessProtein arginine methyltransferase 2 controls inflammatory signaling in acute myeloid leukemia
Arginine methylation is catalyzed by protein arginine methyltransferases (PRMTs) and is involved in various cellular processes, including cancer development. PRMT2 expression is increased in several cancer typ...
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Article
Open AccessDistinct origin and region-dependent contribution of stromal fibroblasts to fibrosis following traumatic injury in mice
Fibrotic scar tissue formation occurs in humans and mice. The fibrotic scar impairs tissue regeneration and functional recovery. However, the origin of scar-forming fibroblasts is unclear. Here, we show that s...
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Article
The COL6A5-p.Glu2272* mutation induces chronic itch in mice
Pruritus is a common irritating sensation that provokes the desire to scratch. Environmental and genetic factors contribute to the onset of pruritus. Moreover, itch can become a major burden when it becomes ch...
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Article
Open AccessThe Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome
Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi
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Article
Open AccessHow much do we know about the function of mammalian genes?
The last two decades have seen impressive advances in functional genomics, but we are still a long way from understanding the complexity of gene function. Here, we pose questions on how much is currently known ab...
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Article
Open AccessDissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associated 16p11.2 locus.
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Article
Open AccessDevelopment of HPV16 mouse and dog models for more accurate prediction of human vaccine efficacy
Animal models are essential to understand the physiopathology of human diseases but also to evaluate new therapies. However, for several diseases there is no appropriate animal model, which complicates the dev...
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Article
Open AccessComprehensive ECG reference intervals in C57BL/6N substrains provide a generalizable guide for cardiac electrophysiology studies in mice
Reference ranges provide a powerful tool for diagnostic decision-making in clinical medicine and are enormously valuable for understanding normality in pre-clinical scientific research that uses in vivo models. A...
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Article
Open AccessAuthor Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
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Article
Open AccessGenome-wide screening reveals the genetic basis of mammalian embryonic eye development
Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations ...
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Article
Open AccessGdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data
In individuals or animals suffering from genetic or acquired diseases, it is important to identify which clinical or phenotypic variables can be used to discriminate between disease and non-disease states, the...
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Article
Open AccessIdentifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
Autism spectrum condition or ‘autism’ is associated with numerous genetic risk factors including the polygenic 16p11.2 microdeletion. The balance between excitatory and inhibitory neurons in the cerebral cortex i...
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Protocol
CRISMERE Chromosome Engineering in Mouse and Rat
CRISPR/Cas9 technology is a versatile tool for engineering biology that has dramatically transformed our ability to manipulate genomes. In this protocol, we use its capacity to generate two double-strand break...
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Article
Open AccessAnalysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenoty** Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse line...
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Article
Open AccessPossible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding gene...
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Article
Open AccessPublisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
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Article
Open AccessINFRAFRONTIER quality principles in systemic phenoty**
Improving reproducibility and replicability in preclinical research is a widely discussed and pertinent topic, especially regarding ethical responsibility in animal research. INFRAFRONTIER, the European Resear...
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Article
Open AccessExtensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electroc...
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Article
Open AccessProMetIS, deep phenoty** of mouse models by combined proteomics and metabolomics analysis
Genes are pleiotropic and getting a better knowledge of their function requires a comprehensive characterization of their mutants. Here, we generated multi-level data combining phenomic, proteomic and metabolo...
