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000279369 041__ $$aEnglish
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000279369 1001_ $$aHang, Abraham$$b0
000279369 245__ $$aOcular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes.
000279369 260__ $$aRockville, Md.$$bARVO$$c2025
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000279369 520__ $$aAnalyze 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.
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000279369 650_7 $$2NLM Chemicals$$aEye Proteins
000279369 650_2 $$2MeSH$$aAnimals
000279369 650_2 $$2MeSH$$aMice, Knockout
000279369 650_2 $$2MeSH$$aMice
000279369 650_2 $$2MeSH$$aPhenotype
000279369 650_2 $$2MeSH$$aDisease Models, Animal
000279369 650_2 $$2MeSH$$aHumans
000279369 650_2 $$2MeSH$$aRetina: pathology
000279369 650_2 $$2MeSH$$aRetina: metabolism
000279369 650_2 $$2MeSH$$aMacular Degeneration: genetics
000279369 650_2 $$2MeSH$$aEye Proteins: genetics
000279369 7001_ $$aShao, Andy$$b1
000279369 7001_ $$aShea, Michael$$b2
000279369 7001_ $$aRoux, Michel J$$b3
000279369 7001_ $$aImai-Leonard, Denise M$$b4
000279369 7001_ $$aAdams, David J$$b5
000279369 7001_ $$aAmano, Takanori$$b6
000279369 7001_ $$aAmarie, Oana V$$b7
000279369 7001_ $$aBerberovic, Zorana$$b8
000279369 7001_ $$aBour, Raphaël$$b9
000279369 7001_ $$aBower, Lynette$$b10
000279369 7001_ $$aLeonard, Brian C$$b11
000279369 7001_ $$aBrown, Steve D$$b12
000279369 7001_ $$aCho, Soo Young$$b13
000279369 7001_ $$aClementson-Mobbs, Sharon$$b14
000279369 7001_ $$aD'Souza, Abigail J$$b15
000279369 7001_ $$aDickinson, Mary$$b16
000279369 7001_ $$aEskandarian, Mohammad$$b17
000279369 7001_ $$aFlenniken, Ann M$$b18
000279369 7001_ $$aFuchs, Helmut$$b19
000279369 7001_ $$aGailus-Durner, Valerie$$b20
000279369 7001_ $$aHeaney, Jason$$b21
000279369 7001_ $$aHérault, Yann$$b22
000279369 7001_ $$aHrabe de Angelis, Martin$$b23
000279369 7001_ $$aHsu, Chih-Wei$$b24
000279369 7001_ $$aJin, Shundan$$b25
000279369 7001_ $$aJoynson, Russell$$b26
000279369 7001_ $$aKang, Yeon Kyung$$b27
000279369 7001_ $$aKim, Haerim$$b28
000279369 7001_ $$aMasuya, Hiroshi$$b29
000279369 7001_ $$aNam, Ki-Hoan$$b30
000279369 7001_ $$aNoh, Hyuna$$b31
000279369 7001_ $$aNutter, Lauryl M J$$b32
000279369 7001_ $$aPalkova, Marcela$$b33
000279369 7001_ $$aProchazka, Jan$$b34
000279369 7001_ $$aRaishbrook, Miles Joseph$$b35
000279369 7001_ $$aRiet, Fabrice$$b36
000279369 7001_ $$aSalazar, Jason$$b37
000279369 7001_ $$aSeavitt, John Richard$$b38
000279369 7001_ $$aSedlacek, Radislav$$b39
000279369 7001_ $$aSelloum, Mohammed$$b40
000279369 7001_ $$aSeo, Kyoung Yul$$b41
000279369 7001_ $$aSeong, Je Kyung$$b42
000279369 7001_ $$aShin, Hae-Sol$$b43
000279369 7001_ $$aShiroishi, Toshihiko$$b44
000279369 7001_ $$aSorg, Tania$$b45
000279369 7001_ $$aStewart, Michelle$$b46
000279369 7001_ $$aTamura, Masaru$$b47
000279369 7001_ $$aTolentino, Heather$$b48
000279369 7001_ $$aUdensi, Uchechukwu$$b49
000279369 7001_ $$aWells, Sara$$b50
000279369 7001_ $$0P:(DE-2719)2000028$$aWurst, Wolfgang$$b51$$udzne
000279369 7001_ $$aYoshiki, Atsushi$$b52
000279369 7001_ $$aMeziane, Hamid$$b53
000279369 7001_ $$aYiu, Glenn C$$b54
000279369 7001_ $$aSieving, Paul A$$b55
000279369 7001_ $$aLanoue, Louise$$b56
000279369 7001_ $$aLloyd, K C Kent$$b57
000279369 7001_ $$aMcKerlie, Colin$$b58
000279369 7001_ $$aMoshiri, Ala$$b59
000279369 7001_ $$aConsortium, International Mouse Phenotyping$$b60$$eCollaboration Author
000279369 773__ $$0PERI:(DE-600)2009858-3$$a10.1167/iovs.66.6.64$$gVol. 66, no. 6, p. 64 -$$n6$$p64$$tInvestigative ophthalmology & visual science$$v66$$x0146-0404$$y2025
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