Purpose: We examined the influence of retinal degeneration 8 (rd8) mutation of crumbs homolog 1 (CRB1) gene on age-related macular degeneration (AMD) phenotype in nuclear factor E2-related factor 2 knock out (NRF2) mouse model.

Methods: CRB1 mutation genotype was determined by polymerase chain reaction from tail clips in 73 NRF2 mice originating from C57BL/6J background on mixed C57BL/6J and C57BL/6N ancestry. The clinical grade of AMD-like fundus alterations was determined by funduscopy, optical coherence tomography (OCT) and fluorescein angiography (FLA) at the age of 9 or 12 months.

Results: Twelve NRF2 mice were wildtype CRB1, 61 NRF2 were homozygous CRB1. NRF2CRB1 mice had a significantly higher probability to show an advanced grade (grade 4 and 5) of AMD-like fundus alterations known to appear in NRF2 mice. Choroidal neovascularization (CNV) was only detected in NRF2CRB1 homozygous mice.

Conclusions: Homozygous CRB1 mutation is common in commercial vendor mice strains of C57BL/6J origin if partly on C57BL/6N ancestry. The mutation has an influence on the extent of AMD-like retinal alterations in NRF2 mice and favors CNV formation.

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http://dx.doi.org/10.1016/j.advms.2019.11.003DOI Listing

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