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LPI is characterized by urea cycle dysfunction, renal disease, immune dysregulation, growth failure, delayed bone age and osteoporosis. We previously reported that Slc7a7 knockout mice (C57BL\/6\u00d7129\/SvEv F2) recapitulate LPI phenotypes, including growth failure. Our main objective in this study was to characterize the skeletal phenotype in these mice. Compared to wild-type littermates, juvenile Slc7a7 knockout mice demonstrated 70% lower body weights, 87% lower plasma IGF-1 concentrations and delayed skeletal development. Because poor survival prevents evaluation of mature knockout mice, we generated a conditional Slc7a7 deletion in mature osteoblasts or mesenchymal cells of the osteo-chondroprogenitor lineage, but no differences in bone architecture were observed. Overall, global Slc7a7 deficiency caused growth failure with low plasma IGF-1 concentrations and delayed skeletal development, but Slc7a7 deficiency in the osteoblastic lineage was not a major contributor to these phenotypes. Future studies utilizing additional tissue-specific Slc7a7 knockout models may help dissect cell-autonomous and non-cell-autonomous mechanisms underlying phenotypes in LPI.<\/jats:p>","DOI":"10.1242\/dmm.050118","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T13:32:15Z","timestamp":1690205535000},"source":"Crossref","is-referenced-by-count":3,"title":["Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9755-7937","authenticated-orcid":false,"given":"Bridget M.","family":"Stroup","sequence":"first","affiliation":[{"name":"Baylor College of Medicine 1 Department of Molecular and Human Genetics , , Houston, TX 77030 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohui","family":"Li","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine 1 Department of Molecular and Human 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