{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T20:14:56Z","timestamp":1761164096215,"version":"build-2065373602"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,12,11]],"date-time":"2007-12-11T00:00:00Z","timestamp":1197331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Several families exhibiting multiple gastrointestinal stromal tumours (GISTs) and germline c\u2010\n                    <jats:italic>kit<\/jats:italic>\n                    gene mutations at exons 8, 11, 13, or 17 have been reported. These patients also exhibit diffuse hyperplasia of the interstitial cells of Cajal (ICCs) as a pre\u2010existing lesion of multiple GISTs. We generated a mouse model of a family with germline c\u2010\n                    <jats:italic>kit<\/jats:italic>\n                    gene mutation at exon 17, and compared the phenotypes between the mice and humans. The mouse counterpart (KIT\u2010Asp818Tyr) of the human KIT\u2010Asp820Tyr mutation was transmitted into germline by a knock\u2010in strategy. Mating of male and female heterozygotes (KIT\u2010Asp818Tyr\/+) resulted in the generation of homozygotes (KIT\u2010Asp818Tyr\/KIT\u2010Asp818Tyr). Histological examination revealed that all heterozygotes had both a small KIT\u2010positive mesenchymal tumour at the caecum, consistent with GIST, and KIT\u2010positive diffuse spindle\u2010shaped cell proliferation in the distal oesophagus, stomach, proximal duodenum, and colon consistent with ICC hyperplasia. All homozygotes exhibited a larger caecal tumour and more prominent spindle\u2010shaped cell proliferation compared with the heterozygous mice, and they usually died within 10 weeks after birth, likely due to ileus. The small intestine of both genotypes showed no apparent morphological abnormality, and autonomous contraction of the ileal segments appeared normal. Western blotting demonstrated that the caecal tumours expressed phosphorylated KIT, MAPK, Stat1, and Stat5. These mutant mice are considered to be useful for further investigation of the mechanism of GIST development as a result of ICC hyperplasia and for assessment of the\n                    <jats:italic>in vivo<\/jats:italic>\n                    effects of drugs against molecular targets. Copyright \u00a9 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.\n                  <\/jats:p>","DOI":"10.1002\/path.2296","type":"journal-article","created":{"date-parts":[[2007,12,21]],"date-time":"2007-12-21T07:46:59Z","timestamp":1198223219000},"page":"302-311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["A mouse model of a human multiple GIST family with KIT\u2010Asp820Tyr mutation generated by a knock\u2010in 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