Evaluating the Role of RFX3 in Kidney Function and Cilial Development in an Alport Syndrome Mouse Model


Isabel Huesa

Document Type


Publication Date

Summer 2021

JAX Location

In: Student Reports, Summer 2021, The Jackson Laboratory


Alport Syndrome (AS) is caused by mutations in one of three genes, which result in interference in the construction of the α3α4α5(IV) collagen network in the glomerular basement membrane (GBM). Moreover, the disease is considered to be the most common inherited glomerular disease leading to renal failure. Oftentimes, AS patients exhibit disparities in age of onset and severity of disease, suggesting that the syndrome is regulated by modifier genes, or genes that affect phenotypic expression of the primary disease-causing locus. Such genes are not necessarily disease-causing or disease-preventing, but can alter the phenotypic outcome of the primary disease-causing gene. Recent studies in the Korstanje lab have identified several candidate modifier genes in an X-linked Alport Syndrome (XLAS) mouse population, including the transcription factor RFX3. Previously, RFX3 has been shown to regulate genes needed for the assembly and maintenance of nodal monocilia, but little is known about its function in mammalian podocytes, the cells that help maintain the glomerular filtration barrier. My research aims to reveal the role of RFX3 in the podocytes through examination of differences between B6-Col4a5 mutant / Rfx3 heterozygous knockout mice and B6-Col4a5 mutant / Rfx3 wildtype mice.

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