Article
Generation and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing.
Scientific reports - 24 Dec 2025
Oh Dongjin, Seok Cheong, Park Hyun Woo, Park Soomin, Lee Joohyeong, Choi Hyerin, Jawad Ali, Ham Jaehyung, Jang Hyewon, Lee Sang Chul, Oh Byoung Chol, Moon Changjong, Park Kyung Ho, Hyun Sang-Hwan, Kim Daesik
Abstract excerpt
Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase (TYR) gene, resulting in melanin deficiency and severe visual impairments. Although mouse models provide insights into OCA1 pathogenesis, they exhibit significant anatomical and physiological differences from humans, particularly in ocular structure and function, thereby limiting their ability to...
Topics
- Animals
- Albinism, Oculocutaneous
- Gene Editing
- Disease Models, Animal
- Swine
- Monophenol Monooxygenase
- CRISPR-Cas Systems
- Humans
- Electroretinography
- Phenotype