20 Result(s)
within
Marie-Christine Birling
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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
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 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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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
A resource of targeted mutant mouse lines for 5,061 genes
The International Mouse Phenoty** Consortium reports the generation of new mouse mutant strains for more than 5,000 genes, including 2,850 novel null, 2,987 novel conditional-ready and 4,433 novel reporter a...
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Article
Open AccessTargeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models
Gene copy number variants play an important role in the occurrence of neurodevelopmental disorders. Particularly, the deletion of the 16p11.2 locus is associated with autism spectrum disorder, intellectual dis...
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Article
Open AccessTransgenic mouse models expressing human and macaque prion protein exhibit similar prion susceptibility on a strain-dependent manner
Cynomolgus macaque has been used for the evaluation of the zoonotic potential of prion diseases, especially for classical-Bovine Spongiform Encephalopathy (classical-BSE) infectious agent. PrP amino acid seque...
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Article
Open AccessSevere head dysgenesis resulting from imbalance between anterior and posterior ontogenetic programs
Head dysgenesis is a major cause of fetal demise and craniofacial malformation. Although mutations in genes of the head ontogenetic program have been reported, many cases remain unexplained. Head dysgenesis ha...
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Article
Open AccessTUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
De novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been linked to human malformations of cortical development associated with intellectual disability and epilepsy. Here, we investigated throu...
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Article
Open AccessModeling human disease in rodents by CRISPR/Cas9 genome editing
Modeling human disease has proven to be a challenge for the scientific community. For years, generating an animal model was complicated and restricted to very few species. With the rise of CRISPR/Cas9, it is n...
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Article
Open AccessEfficient and rapid generation of large genomic variants in rats and mice using CRISMERE
Modelling Down syndrome (DS) in mouse has been crucial for the understanding of the disease and the evaluation of therapeutic targets. Nevertheless, the modelling so far has been limited to the mouse and, even...
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Article
Open AccessAneuploidy screening of embryonic stem cell clones by metaphase karyoty** and droplet digital polymerase chain reaction
Karyotypic integrity is essential for the successful germline transmission of alleles mutated in embryonic stem (ES) cells. Classical methods for the identification of aneuploidy involve cytological analyses t...
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Article
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
Steve Brown and colleagues report an analysis of 20 phenoty** tests, including 413 data parameters, across 449 mutant mouse alleles. They identify widespread pleiotropy and assign putative functions to genes...
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Article
Open AccessA mu–delta opioid receptor brain atlas reveals neuronal co-occurrence in subcortical networks
Opioid receptors are G protein-coupled receptors (GPCRs) that modulate brain function at all levels of neural integration, including autonomic, sensory, emotional and cognitive processing. Mu (MOR) and delta (...
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Article
Open AccessThe mammalian gene function resource: the international knockout mouse consortium
In 2007, the International Knockout Mouse Consortium (IKMC) made the ambitious promise to generate mutations in virtually every protein-coding gene of the mouse genome in a concerted worldwide action. Now, 5 y...
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Article
Open AccessMouse large-scale phenoty** initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project
Two large-scale phenoty** efforts, the European Mouse Disease Clinic (EUMODIC) and the Wellcome Trust Sanger Institute Mouse Genetics Project (SANGER-MGP), started during the late 2000s with the aim to deliv...
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Protocol
Site-Specific Recombinases for Manipulation of the Mouse Genome
Site-specific recombination systems are widespread and popular tools for all scientists interested in manipulating the mouse genome. In this chapter, we focus on the use of site-specific recombinases (SSR) to ...
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Article
Reg-2 is a motoneuron neurotrophic factor and a signalling intermediate in the CNTF survival pathway
Cytokines that are related to ciliary neurotrophic factor (CNTF) are physiologically important survival factors for motoneurons, but the mechanisms by which they prevent neuronal cell death remain unknown. Reg...
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Article
Biochemical and immunohistochemical studies with specific polyclonal antibodies directed against bovine myelin/oligodendrocyte glycoprotein
Bovine myelin/oligodendrocyte glycoprotein (MOG) was purified from a Wolfgram protein fraction of brain myelin by molecular sieving and preparative gel electrophoresis. The N-terminal sequence of this wheat ge...
