Modeling hyperopia in Prss56glcr4 mice: Molecular comparativ analysis with Mfrprd6 and QTL mapping of axial length alterations


Jessica Guzman

Document Type


Publication Date

Summer 2023



JAX Location

In: Student Reports, Summer 2023, The Jackson Laboratory


Mutations in MFRP and PRSS56 are known to cause hyperopia and affect axial length (AL) in humans [32052405]. Similarly, both Prss56glcr4 and Mfrprd6 mutant mice show a difference in AL by optical coherence tomography (OCT). Currently, there is an incomplete understanding about the functions and pathways affected by these gene mutations that alter AL. To identify genes that interact with Prss56 and affect AL, quantitative trait loci (QTL) mapping study will be performed in homozygous mutant progeny from an intercross of (Prss56glcr4 X C3.BliA) F2 mice. For my project, I analyzed a subset (N=22 out of 230) of the samples collected and performed analysis with 62 microsatellite repeat markers spanning the mouse genome. These results will help to identify the genetic modifiers that can affect the AL phenotype. Additionally, to confirm earlier studies, image analysis was done to confirm the localization of MFRP within the mice eye.

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