@prefix this: . @prefix sub: . @prefix np: . @prefix dct: . @prefix xsd: . @prefix rdfs: . @prefix prov: . @prefix npx: . sub:Head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:pubinfo; a np:Nanopublication . } sub:assertion { ""; "Biology"; a . a ; "biology" . a ; "reporter system" . a ; "Nat. Commun" . a ; "neuronal phenotype" . a ; "fluorescent reporter" . a ; "monogenic disease" . a ; "medicine" . a ; "photon" . a ; "gene" . a ; "cell" . a ; "disease" . a ; "epilepsy" . a ; "gram" . a ; "reporter" . a ; "neuron" . a ; "central nervous system" . a ; "phenotype" . a ; "mosaicism" . a ; "microscopy" . a ; "generation" . a ; "mosaic model" . a ; "mosaic" . a ; "genetics" . a ; "GM. modelling" . "Commun"; a . a ; "genotype" . a ; "knockout mosaic" . a ; "genetic mosaicism" . a ; "inclusion" . a ; "disorder" . a ; "Trovato" . a ; "Landi" . a ; "modelling genetic mosaicism" . "federica.foglini@ismar.cnr.it"; "Federica Foglini"; a . "service-account-enrichment"; a . ; ; "5271"^^xsd:integer; "https://api.rohub.org/api/ros/9641a891-0c97-4a21-bcc5-3c0e7f974ede/crate/download/"; ; "2021-12-10 10:05:58.607206+00:00"; "2025-03-05 00:56:54.503963+00:00"; "2021-12-10 10:05:58.607206+00:00"; "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."; "application/ld+json"; ; "https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede"; ; "Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter"; "MANUAL"; a , , , , ; "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." . ; "346"^^xsd:integer; "https://api.rohub.org/api/resources/863f7285-2401-467b-9d3b-485498dc267d/download/"; ; "2021-12-10 10:06:01.685172+00:00"; "2021-12-10 10:06:01.686020+00:00"; "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."; "text/plain"; ; "Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter"; "2021-12-10 10:06:01.685172+00:00"; a , . dct:conformsTo ; ; a . 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