Transgenic mouse model of Neurofibromatosis type 1

US12052979B2 · kind B2 · utility

Assignees

• 1. PARIS SCIENCES ET LETTRES—QUARTIER LATIN · FR
• CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE · FR
• INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE) · FR

Inventors

• Piotr Topilko · Herbouvilliers, FR
• Patrick Charnay · Bourg-en-Bresse, FR
• Fanny Coulpier · Saint-Maurice, FR
• Aurélie Gresset · Fontenay-aux-Roses, FR
• Katarzyna Radomska · Paris, FR

Key dates

• Filing date: Jun 29, 2018
• Grant date: Aug 6, 2024
• Expiry date: Sep 30, 2040

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2500/10
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

A transgenic non-human animal model for Neurofibromatosis type 1, wherein the Nf1 gene is specifically inactivated in BC cells and derivatives thereof. Also, an in vitro method of producing cutaneous and plexiform Neurofibromas (NFBs) and/or for studying the development and composition of plexiform NFBs, including culturing in vitro Prss56-expressing cells and-derivatives thereof obtained from the transgenic non-human animal model. Further, a method for screening a candidate compound for use as a drug to treat Neurofibromatosis type 1, cutaneous NFBs and/or plexiform NFBs including contacting the candidate compound Prss56-expressing cells and-derivatives thereof obtained from the transgenic non-human animal model or administering the candidate compound to the transgenic non-human animal model.