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http://schema.org/dateModified 2025-03-05 00:56:54.503963+00:00 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://schema.org/datePublished 2021-12-10 10:05:58.607206+00:00 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ 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. https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://schema.org/encodingFormat application/ld+json https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://schema.org/hasPart https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://schema.org/identifier https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://schema.org/license https://choosealicense.com/no-permission/ https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://schema.org/name Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://w3id.org/ro-id/rohub/model#creation_mode MANUAL https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.org/wf4ever/ro#ResearchObject https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.org/wf4ever/roevo#LiveRO https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://schema.org/Dataset https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://w3id.org/ro/earth-science#BibliographyResearchObject https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ http://www.w3.org/1999/02/22-rdf-syntax-ns#type https://w3id.org/ro/terms/earth-science#BibliographyResearchObject https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ 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. https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/author mailto:service-account-generation-service https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/contentSize 346 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/contentUrl https://api.rohub.org/api/resources/863f7285-2401-467b-9d3b-485498dc267d/download/ https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/creator mailto:service-account-generation-service https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/dateCreated 2021-12-10 10:06:01.685172+00:00 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/dateModified 2021-12-10 10:06:01.686020+00:00 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d 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. https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/encodingFormat text/plain https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/license https://choosealicense.com/no-permission/ https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/name Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://schema.org/sdDatePublished 2021-12-10 10:06:01.685172+00:00 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.org/wf4ever/wf4ever#Resource https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/resources/863f7285-2401-467b-9d3b-485498dc267d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://schema.org/MediaObject https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ro-crate-metadata.json http://purl.org/dc/terms/conformsTo https://w3id.org/ro/crate/1.1 https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ro-crate-metadata.json http://schema.org/about https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ro-crate-metadata.json http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://schema.org/CreativeWork mailto:service-account-generation-service http://schema.org/name service-account-generation-service mailto:service-account-generation-service http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://xmlns.com/foaf/0.1/Agent https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/provenance https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/assertion http://www.w3.org/ns/prov#wasDerivedFrom https://api.rohub.org/api/ros/9641a891-0c97-4a21-bcc5-3c0e7f974ede/crate/download/ro-crate-metadata.json https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/pubinfo https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0 http://purl.org/dc/terms/created 2026-03-03T16:43:41.058+01:00 https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0 http://purl.org/dc/terms/creator https://w3id.org/kpxl/gen/terms/RoCrateBot https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0 http://purl.org/nanopub/x/introduces https://w3id.org/ro-id/9641a891-0c97-4a21-bcc5-3c0e7f974ede/ https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.org/nanopub/x/RoCrateNanopub https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0 http://www.w3.org/2000/01/rdf-schema#label Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/sig http://purl.org/nanopub/x/hasAlgorithm RSA https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/sig http://purl.org/nanopub/x/hasPublicKey MIIBIjANBgkqhkiG9w0BAQEFAAOCAQ8AMIIBCgKCAQEAxszSDYX5tuCSkP7UiCtftYPFNQVTjgNu0I5fwdML2DLRDlp0xzmsQXRk8oHuvwGvG1aMjj6cpUqO+0rz2Sg/wvHOgUpkRH8VJXvmlkhafMLCMtUtk5JIx7e+fkzCby+fnmD7kMkGLrT+OaExWwEDmNlCAt0TPKcHSdwsjso2isXjtAsGevyCMke8ufnFYpjs746JES1eNzVnHnn2Kp/lqcm60GM+J8dLgRZp7fX0anW098xhKym6+xXFzqeju0vYRIHBPerv+r7skWxwk+a7Sd8msqVeYEv6NTqnyWvyWb6Yh8cvj04N6qm/T6C5FUPLQhzSaQgMVMU6yLqjPuu9DwIDAQAB https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/sig http://purl.org/nanopub/x/hasSignature KjzSOf8ujnmksonL5S0apEj0oMq9oE/H7eFJ9bU3JWxCeorAV2IPmN73fxf0YACM3tzfk+/QNevgVnlPBjDSO6XBh6aDcAWYh9PH6BNhyVqDONo5G962AyJeiiaRFvzzjJ6pq2uW1vANrmTJ0O1zFUy4rSG8xXaSLEaCTAhXurtnNaenN3Xzme4of5Yt8ZS2VaMv3CW2V2euISwUqrelIzDeJpgPkzChJk5PnphY/zUV/GURAswL42LEa6KfYfGvpn7Wk1HeiUm9p29Dj3ZAa7V9mOTM/iMXLx0iV4MKwTLh9+MlZnHSJ5tSsBSRb6FE90ul0ncstRG4lG9AjIggsg== https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/sig http://purl.org/nanopub/x/hasSignatureTarget https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0 https://w3id.org/np/RAayjZpU3XiN94dTuMD4RB4n-yFGgb83zHERb5LjLgBb0/sig http://purl.org/nanopub/x/signedBy https://w3id.org/kpxl/gen/terms/RoCrateBot