Open AccessCharacterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS
Author(s) -
Cesar P Canales,
Paola Krall,
Pamela Kairath,
Irene C. Perez,
Miryam A. Fragoso,
Paulina Carmona-Mora,
Phillip Ruiz,
Jochen Reiser,
Juan I. Young,
Katherina Walz
Publication year - 2015
Publication title -
british journal of medicine and medical research
Language(s) - English
Resource type - Journals
ISSN - 2231-0614
DOI - 10.9734/bjmmr/2015/12493
Subject(s) - trpc6 , genetically modified mouse , focal segmental glomerulosclerosis , transgene , cancer research , phenotype , mutant , medicine , biology , genetics , kidney , glomerulonephritis , gene , receptor , transient receptor potential channel
Mutations in Transient Receptor Potential Channel 6 ( TRPC6 ) gene are associated with autosomal dominant focal and segmental glomerulosclerosis (FSGS). The majority of the identified mutations affect the ion channel function. Since calcium channels are promising candidate drug targets, there is an an urgent need for a mouse model to assess new therapeutic drugs and to help delineate the pathogenic process leading to FSGS. We have previously reported the generation of three independent transgenic mouse lines carrying different Trpc6 mutations that display a glomerular disease comparable to the phenotype presented by individuals with FSGS. However, the utility of these models for drug testing is dampened by the late-onset of the presentation and the mild phenotypic manifestations.