TY  - JOUR
AU  - Hang, Abraham
AU  - Shao, Andy
AU  - Shea, Michael
AU  - Roux, Michel J
AU  - Imai-Leonard, Denise M
AU  - Adams, David J
AU  - Amano, Takanori
AU  - Amarie, Oana V
AU  - Berberovic, Zorana
AU  - Bour, Raphaël
AU  - Bower, Lynette
AU  - Leonard, Brian C
AU  - Brown, Steve D
AU  - Cho, Soo Young
AU  - Clementson-Mobbs, Sharon
AU  - D'Souza, Abigail J
AU  - Dickinson, Mary
AU  - Eskandarian, Mohammad
AU  - Flenniken, Ann M
AU  - Fuchs, Helmut
AU  - Gailus-Durner, Valerie
AU  - Heaney, Jason
AU  - Hérault, Yann
AU  - Hrabe de Angelis, Martin
AU  - Hsu, Chih-Wei
AU  - Jin, Shundan
AU  - Joynson, Russell
AU  - Kang, Yeon Kyung
AU  - Kim, Haerim
AU  - Masuya, Hiroshi
AU  - Nam, Ki-Hoan
AU  - Noh, Hyuna
AU  - Nutter, Lauryl M J
AU  - Palkova, Marcela
AU  - Prochazka, Jan
AU  - Raishbrook, Miles Joseph
AU  - Riet, Fabrice
AU  - Salazar, Jason
AU  - Seavitt, John Richard
AU  - Sedlacek, Radislav
AU  - Selloum, Mohammed
AU  - Seo, Kyoung Yul
AU  - Seong, Je Kyung
AU  - Shin, Hae-Sol
AU  - Shiroishi, Toshihiko
AU  - Sorg, Tania
AU  - Stewart, Michelle
AU  - Tamura, Masaru
AU  - Tolentino, Heather
AU  - Udensi, Uchechukwu
AU  - Wells, Sara
AU  - Wurst, Wolfgang
AU  - Yoshiki, Atsushi
AU  - Meziane, Hamid
AU  - Yiu, Glenn C
AU  - Sieving, Paul A
AU  - Lanoue, Louise
AU  - Lloyd, K C Kent
AU  - McKerlie, Colin
AU  - Moshiri, Ala
TI  - Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes.
JO  - Investigative ophthalmology & visual science
VL  - 66
IS  - 6
SN  - 0146-0404
CY  - Rockville, Md.
PB  - ARVO
M1  - DZNE-2025-00746
SP  - 64
PY  - 2025
AB  - Analyze phenotypic data from knockout mice with late-adult retinal pathologic phenotypes to identify genes associated with development of adult-onset retinal diseases.The International Mouse Phenotyping Consortium (IMPC) database was queried for genes associated with abnormal retinal phenotypes in the late-adult knockout mouse pipeline (49-80 weeks postnatal age). We identified human orthologs and performed protein-protein analysis and biological pathways analysis with known inherited retinal disease (IRD) and age-related macular degeneration (AMD) genes using Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), PLatform for Analysis of single cell Eye in a Disk (PLAE), Protein Analysis Through Evolutionary Relationships (PANTHER), and Kyoto Encyclopedia of Genes and Genomes (KEGG).Screening of 587 late-adult mouse genes yielded 12 with abnormal retinal phenotypes, which corresponded to 20 human orthologs. Three of the 12 mouse genes and two of the 20 human orthologs were previously implicated in retinal pathology or physiology in a literature review. Although all of the genes demonstrated retinal pathology when deleted from the mouse genome, most do not have established roles in human retinal disease. Furthermore, human protein-protein analysis and biological pathway analysis yielded only a few relationships between the candidate gene list and that of known IRD and AMD genes, suggesting they may represent novel retinal functions.We identified 12 mouse genes with significant late-adult abnormal retinal pathology, eight of which have not been previously implicated in either mouse or human retinal physiology or pathology. These serve as novel retinal disease gene candidates for late-onset retinal disease.
KW  - Animals
KW  - Mice, Knockout
KW  - Mice
KW  - Phenotype
KW  - Disease Models, Animal
KW  - Humans
KW  - Retina: pathology
KW  - Retina: metabolism
KW  - Macular Degeneration: genetics
KW  - Eye Proteins: genetics
KW  - Eye Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40548636
C2  - pmc:PMC12186831
DO  - DOI:10.1167/iovs.66.6.64
UR  - https://pub.dzne.de/record/279369
ER  -