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Query Results -- Details

MGI Accession ID: MGI:49363
J Number: J:830
Other Accession IDs: Title: Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene [published erratum appears in Science 1992 May 22;256(5060):1114]
Authors: Su LK; Kinzler KW; Vogelstein B; Preisinger AC; Moser AR; Luongo C; Gould KA; Dove WF
Journal: Science
Volume: 256
Issue: 5057
Date: 1992 May 1
Year: 1992
Pages: 668-70
Review Status: Peer Reviewed

Abstract:

Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans. Patients with FAP develop multiple benign colorectal tumors. Recently, a mouse lineage that exhibits an autosomal dominantly inherited predisposition to multiple intestinal neoplasia (Min) was described. Linkage analysis showed that the murine homolog of the APC gene (mApc) was tightly linked to the Min locus. Sequence comparison of mApc between normal and Min-affected mice identified a nonsense mutation, which cosegregated with the Min phenotype. This mutation is analogous to those found in FAP kindreds and in sporadic colorectal cancers.

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