Modeling hyperopia in Prss56^glcr4 mice: Molecular comparativ analysis with Mfrp^rd6 and QTL mapping of axial length alterations

Authors

Jessica Guzman

Document Type

Article

Publication Date

Summer 2023

Keywords

JMG

JAX Location

In: Student Reports, Summer 2023, The Jackson Laboratory

Sponsor

Navdeep Gogna, Ph.D.

Abstract

Mutations in MFRP and PRSS56 are known to cause hyperopia and affect axial length (AL) in humans [32052405]. Similarly, both Prss56^glcr4 and Mfrp^rd6 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 (Prss56^glcr4 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.

Recommended Citation

Guzman, Jessica, "Modeling hyperopia in Prss56^glcr4 mice: Molecular comparativ analysis with Mfrp^rd6 and QTL mapping of axial length alterations" (2023). Summer and Academic Year Student Reports. 2749.
https://mouseion.jax.org/strp/2749