Genitourinary defects, anxiety and aggressive-like behavior and glucose metabolism disorders in <i>Zmym2</i> mutant mice with inserted piggyBac transposon.

ABSTRACT: Mutations in ZMYM2 lead to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Tbx18 is co-expressed with Zmym2 in mesenchymal compartment of developing mouse ureter, indicating a potential in vivo relevance of the TBX18-ZMYM2 protein interaction in ureter development. The presence of multiple phenotypes beyond the urinary system in CAKUT patients carrying ZMYM2 mutations suggests that ZMYM2 has extensive roles in various developmental processes. This study aims to comprehensively examine the multi-phenotypic consequence of ZMYM2 mutations, with a particular focus on the roles of ZMYM2 in embryonic development, late metanephros formation, and the reproductive, nervous and endocrine systems, in addition to its role in urinary system.

SUBMITTER: Dai R 

PROVIDER: S-EPMC12043690 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature