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Publication : CRB1<sup>rd8</sup> mutation influences the age-related macular degeneration phenotype of NRF2 knockout mice and favors choroidal neovascularization.

First Author  Richert E Year  2020
Journal  Adv Med Sci Volume  65
Issue  1 Pages  71-77
PubMed ID  31918066 Mgi Jnum  J:301886
Mgi Id  MGI:6507283 Doi  10.1016/j.advms.2019.11.003
Citation  Richert E, et al. (2020) CRB1(rd8) mutation influences the age-related macular degeneration phenotype of NRF2 knockout mice and favors choroidal neovascularization. Adv Med Sci 65(1):71-77
abstractText  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(rd8) 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(rd8/rd8). NRF2(-/-)CRB1(rd8/rd8) 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 NRF2(-/-)CRB1(rd8/rd8) homozygous mice. CONCLUSIONS: Homozygous CRB1(rd8/rd8) 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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