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    <http://www.w3.org/2004/02/skos/core#prefLabel> "modelling genetic mosaicism" .
  <https://orcid.org/0000-0002-2736-0052> <http://schema.org/email> "federica.foglini@ismar.cnr.it" ;
    <http://schema.org/name> "Federica Foglini" ;
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    <http://schema.org/dateCreated> "2021-12-10 10:05:58.607206+00:00" ;
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    <http://schema.org/description> "Genetic mosaicism, a condition in which an organ includes cells with different genotypes, is frequently present in monogenic diseases of the central nervous system caused by the random inactivation of the X-chromosome, in the case of X-linked pathologies, or by somatic mutations affecting a subset of neurons. The comprehension of the mechanisms of these diseases and of the cell-autonomous effects of specific mutations requires the generation of sparse mosaic models, in which the genotype of each neuron is univocally identified by the expression of a fluorescent protein in vivo. Here, we show a dual-color reporter system that, when expressed in a floxed mouse line for a target gene, leads to the creation of mosaics with tunable degree. We demonstrate the generation of a knockout mosaic of the autism/epilepsy related gene PTEN in which the genotype of each neuron is reliably identified, and the neuronal phenotype is accurately characterized by two-photon microscopy." ;
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    <https://www.w3.org/ns/iana/link-relations/relation#cite-as> "Foglini, Federica. \"Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter.\" ROHub. Dec 10 ,2021. https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede." .
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    <http://schema.org/description> "Genetic mosaicism, a condition in which an organ includes cells with different genotypes, is frequently present in monogenic diseases of the central nervous system caused by the random inactivation of the X-chromosome, in the case of X-linked pathologies, or by somatic mutations affecting a subset of neurons. The comprehension of the mechanisms of these diseases and of the cell-autonomous effects of specific mutations requires the generation of sparse mosaic models, in which the genotype of each neuron is univocally identified by the expression of a fluorescent protein in vivo. Here, we show a dual-color reporter system that, when expressed in a floxed mouse line for a target gene, leads to the creation of mosaics with tunable degree. We demonstrate the generation of a knockout mosaic of the autism/epilepsy related gene PTEN in which the genotype of each neuron is reliably identified, and the neuronal phenotype is accurately characterized by two-photon microscopy." ;
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