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Large animal models are useful to help dissect molecular mechanisms, determine relevant biomarkers, and develop effective therapeutics. Here, we studied a NF1 minipig model (<jats:italic>NF1<\/jats:italic><jats:sup><jats:italic>+\/ex42del<\/jats:italic><\/jats:sup>) for the first 12 months of life to evaluate phenotype development, track disease progression, and provide a comparison to human subjects. Through systematic evaluation, we have shown that compared to littermate controls, the NF1 model develops phenotypic characteristics of human NF1: [1] caf\u00e9-au-lait macules, [2] axillary\/inguinal freckling, [3] shortened stature, [4] tibial bone curvature, and [5] neurofibroma. At 4 months, full body computed tomography imaging detected significantly smaller long bones in <jats:italic>NF1<\/jats:italic><jats:sup><jats:italic>+\/ex42del<\/jats:italic><\/jats:sup> minipigs compared to controls, indicative of shorter stature. We found quantitative evidence of tibial bowing in a subpopulation of NF1 minipigs. By 8 months, an <jats:italic>NF1<\/jats:italic><jats:sup><jats:italic>+\/ex42del<\/jats:italic><\/jats:sup> boar developed a large diffuse shoulder neurofibroma, visualized on magnetic resonance imaging, which subsequently grew in size and depth as the animal aged up to 20 months. The <jats:italic>NF1<\/jats:italic><jats:sup><jats:italic>+\/ex42del<\/jats:italic><\/jats:sup> minipig model progressively demonstrates signature attributes that parallel clinical manifestations seen in humans and provides a viable tool for future translational NF1 research.<\/jats:p>","DOI":"10.1038\/s41598-020-61251-4","type":"journal-article","created":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T11:04:07Z","timestamp":1584615847000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Longitudinal phenotype development in a minipig model of neurofibromatosis type 1"],"prefix":"10.1038","volume":"10","author":[{"given":"Johanna","family":"Uthoff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jared","family":"Larson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi S.","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Hammond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly E.","family":"Schroeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rohret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher S.","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn E.","family":"Quelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin W.","family":"Darbro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Khanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill M.","family":"Weimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David K.","family":"Meyerholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica C.","family":"Sieren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,19]]},"reference":[{"key":"61251_CR1","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1016\/S1474-4422(14)70063-8","volume":"13","author":"AC Hirbe","year":"2014","unstructured":"Hirbe, A. 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