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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...

    Ameer Abu Bakr Rasheed, Marie-Christine Birling, Giuseppe Lauria in Mammalian Genome (2024)

  2. No Access

    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...

    Marie-Christine Birling, Atsushi Yoshiki, David J. Adams, Shinya Ayabe in Nature Genetics (2021)

  3. Article

    Open Access

    Targeting 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...

    Sandra Martin Lorenzo, Valérie Nalesso, Claire Chevalier in Molecular Autism (2021)

  4. Article

    Open Access

    Modeling 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...

    Marie-Christine Birling, Yann Herault, Guillaume Pavlovic in Mammalian Genome (2017)

  5. No Access

    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...

    Martin Hrabě de Angelis, George Nicholson, Mohammed Selloum in Nature Genetics (2015)

  6. Article

    Open Access

    The 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...

    Allan Bradley, Konstantinos Anastassiadis, Abdelkader Ayadi in Mammalian Genome (2012)

  7. Article

    Open Access

    Mouse 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...

    Abdel Ayadi, Marie-Christine Birling, Joanna Bottomley, James Bussell in Mammalian Genome (2012)

  8. No Access

    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 ...

    Marie-Christine Birling, Françoise Gofflot, Xavier Warot in Transgenesis Techniques (2009)