. . . . "" . "Biology" . . . "biology" . . "reporter system" . . "Nat. Commun" . . "neuronal phenotype" . . "fluorescent reporter" . . "monogenic disease" . . "medicine" . . "photon" . . "gene" . . "cell" . . "disease" . . "epilepsy" . . "gram" . . "reporter" . . "neuron" . . "central nervous system" . . "phenotype" . . "mosaicism" . . "microscopy" . . "generation" . . "mosaic model" . . "mosaic" . . "genetics" . . "GM. modelling" . "Commun" . . . "genotype" . . "knockout mosaic" . . "genetic mosaicism" . . "inclusion" . . "disorder" . . "Trovato" . . "Landi" . . "modelling genetic mosaicism" . "federica.foglini@ismar.cnr.it" . "Federica Foglini" . . "service-account-enrichment" . . . . "5271"^^ . "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" . . . . . . "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"^^ . "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" . . . . . . "service-account-generation-service" . . . "2026-03-03T16:43:41.058+01:00"^^ . . . . "Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter" . "RSA" . "MIIBIjANBgkqhkiG9w0BAQEFAAOCAQ8AMIIBCgKCAQEAxszSDYX5tuCSkP7UiCtftYPFNQVTjgNu0I5fwdML2DLRDlp0xzmsQXRk8oHuvwGvG1aMjj6cpUqO+0rz2Sg/wvHOgUpkRH8VJXvmlkhafMLCMtUtk5JIx7e+fkzCby+fnmD7kMkGLrT+OaExWwEDmNlCAt0TPKcHSdwsjso2isXjtAsGevyCMke8ufnFYpjs746JES1eNzVnHnn2Kp/lqcm60GM+J8dLgRZp7fX0anW098xhKym6+xXFzqeju0vYRIHBPerv+r7skWxwk+a7Sd8msqVeYEv6NTqnyWvyWb6Yh8cvj04N6qm/T6C5FUPLQhzSaQgMVMU6yLqjPuu9DwIDAQAB" . "KjzSOf8ujnmksonL5S0apEj0oMq9oE/H7eFJ9bU3JWxCeorAV2IPmN73fxf0YACM3tzfk+/QNevgVnlPBjDSO6XBh6aDcAWYh9PH6BNhyVqDONo5G962AyJeiiaRFvzzjJ6pq2uW1vANrmTJ0O1zFUy4rSG8xXaSLEaCTAhXurtnNaenN3Xzme4of5Yt8ZS2VaMv3CW2V2euISwUqrelIzDeJpgPkzChJk5PnphY/zUV/GURAswL42LEa6KfYfGvpn7Wk1HeiUm9p29Dj3ZAa7V9mOTM/iMXLx0iV4MKwTLh9+MlZnHSJ5tSsBSRb6FE90ul0ncstRG4lG9AjIggsg==" . . .