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Pathological structure of the kidney from adult mice with mosaic mutation
Author(s) -
Lenartowicz M.,
Kowal M.,
BudaLewandowska D.,
Styrna J.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1022877130344
Subject(s) - mutant , kidney , biology , mutation , pathological , atp7a , endocrinology , medicine , genetics , pathology , gene , transporter
Summary: The mosaic ( Atp7a mo‐ms ) is an X‐linked, lethal mutation in mice. In mosaic mutant males, many clinical features characteristic of defective copper metabolism have been observed and they die at the age of 15 days, exhibiting strongsimilarities to the brindled and macular mutants. About 4% of the mutant males live to sexual maturity and some of them are fertile. In this paper, alterationsin the structure of the kidney from adult mutants are described. Owing to an inherited defect of efflux, copper is accumulated in the kidney of the mutants up to a toxic level and this leads to severe damage of the renal cortex. Pathological changes in the kidney mostly affected the structure of the renal corpuscle and renaltubules.