Rats heterozygous for the MENX-associated p27 mutation develop a MEN phenotype Abstract #361

Introduction: MENX is a spontaneous multiple endocrine neoplasia syndrome in the rat showing phenotypic overlap with both MEN1 and MEN2 human syndromes. MENX is caused by a biallelic germline mutation of the Cdkn1b (p27) gene and it was described as recessively inherited. CDKN1B alterations have been also identified in human patients with MEN1-like features but no MEN1 mutations (MEN4).
Aim(s): Since MEN4 patients present germline CDKN1B monoallelic mutations and mice with only one null Cdkn1b allele are predisposed to tumor formation, we performed a detailed phenotypic characterization of rats heterozygous for the germline Cdkn1b mutation causing MENX.
Materials and methods: We determined the overall survival of wild-type (p27+/+) and heterozygous (p27+/m) rats and performed histological and immunohistochemical analysis of their tissues.
Conference:
Category: Basic
Presenting Author: PhD Sara Molatore
Keywords: MEN, p27, MTC

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