{"doi":"10.1111/j.1742-4658.2009.07310.x","title":"Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo","abstract":"<jats:p>Vertebrate eye development requires a series of complex morphogenetic and inductive events to produce a lens vesicle centered within the bilayered optic cup and a posteriorly positioned optic stalk. Multiple congenital eye defects, including microphthalmia and coloboma, result from defects in early eye morphogenesis. Cdo is a multifunctional cell surface immunoglobulin superfamily member that interacts with and mediates signaling by cadherins and netrins to regulate myogenesis. In addition, Cdo plays an essential role in early forebrain development by functioning as coreceptor for sonic hedgehog. It is reported here that <jats:italic>Cdo</jats:italic> is expressed in a dynamic, but dorsally restricted, fashion during early eye development, and that mice lacking Cdo display multiple eye defects. Anomalies seen in <jats:italic>Cdo</jats:italic><jats:sup>−/<jats:italic>−</jats:italic></jats:sup> mice include coloboma (failure to close the optic fissure); failure to form a proper boundary between the retinal pigmented epithelium and optic stalk; defective lens formation, including failure to separate from the surface ectoderm; and microphthalmia. Consistent with this wide array of defects, developing eyes of <jats:italic>Cdo</jats:italic><jats:sup>−/<jats:italic>−</jats:italic></jats:sup> mice show altered expression of several regulators of dorsoventral eye patterning, including <jats:italic>Pax6</jats:italic>, <jats:italic>Pax2</jats:italic>, and <jats:italic>Tbx5</jats:italic>. Taken together, these findings show that Cdo is required for normal eye development and is required for normal expression of patterning genes in both the ventral and dorsal domains. The multiple eye development defects seen in <jats:italic>Cdo</jats:italic><jats:sup>−/<jats:italic>−</jats:italic></jats:sup> mice suggest that mutations in human Cdo could contribute to congenital eye anomalies, such as Jacobsen syndrome, which is frequently associated with ocular defects, including coloboma and Peters’ anomaly.</jats:p>","journal":"The FEBS Journal","year":2009,"id":24772,"datarank":1.1818154515693924,"base_score":3.367295829986474,"endowment":3.367295829986474,"self_citation_contribution":0.5050943744979712,"citation_network_contribution":0.6767210770714212,"self_endowment_contribution":0.5050943744979712,"citer_contribution":0.6767210770714212,"corpus_percentile":null,"corpus_rank":null,"citation_count":28,"citer_count":26,"citers_with_citation_signal":18,"citers_with_endowment":18,"datacite_reuse_total":8,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":147642,"name":"Philip J. Mulieri","orcid":null,"position":1,"is_corresponding":false},{"id":147643,"name":"Ursula Gaio","orcid":null,"position":2,"is_corresponding":false},{"id":147644,"name":"Gyu‐Un Bae","orcid":null,"position":3,"is_corresponding":false},{"id":147645,"name":"Robert S. Krauss","orcid":null,"position":4,"is_corresponding":false},{"id":147646,"name":"Jong‐Sun Kang","orcid":null,"position":5,"is_corresponding":false},{"id":107697,"name":"Wei Zhang","orcid":"0000-0002-4700-2658","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":3.367295829986474,"endowment":3.367295829986474,"datacite_reuse_total":8,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"19754878","pmcid":null,"openalex_id":"https://openalex.org/W1583151630","authors":[],"funders":[{"funder_name":"NIAMS NIH HHS","grant_id":"AR46207","title":null}],"total_grants":1,"fwci":0.5779,"citation_percentile":0.7192397,"influential_citations":2,"citation_trend":[{"year":2012,"count":1},{"year":2014,"count":3},{"year":2015,"count":1},{"year":2016,"count":3},{"year":2017,"count":1},{"year":2018,"count":1},{"year":2019,"count":2},{"year":2020,"count":2},{"year":2021,"count":1},{"year":2022,"count":4},{"year":2023,"count":2},{"year":2024,"count":3},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"bronze","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1742-4658.2009.07310.x","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1742-4658.2009.07310.x","host_type":"BRONZE"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1742-4658.2009.07310.x","host_type":"publisher"},{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1742-4658.2009.07310.x","host_type":"publisher"},{"url":"https://febs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1742-4658.2009.07310.x","host_type":"publisher"},{"url":"https://doi.org/10.1111/j.1742-4658.2009.07310.x","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/19754878","host_type":"repository"}],"fields_of_study":["Ocular Disorders and Treatments","Hedgehog Signaling Pathway Studies","Corneal Surgery and Treatments","Biology","Medicine","Animals","Cell Adhesion Molecules","Eye","Eye Proteins","Female","Gene Expression Regulation, Developmental","Homeodomain Proteins","Immunohistochemistry","In Situ Hybridization","In Situ Nick-End Labeling","Male","Mice","Mice, Mutant Strains","PAX2 Transcription Factor","PAX6 Transcription Factor","Paired Box Transcription Factors","Repressor Proteins","T-Box Domain Proteins"],"mesh_terms":["PAX6 Transcription Factor","Animals","Eye","Eye Proteins","Female","Immunohistochemistry","Male","Mice, Mutant Strains","Repressor Proteins","Cell Adhesion Molecules","In Situ Hybridization","Homeodomain Proteins","Gene Expression Regulation, Developmental","In Situ Nick-End Labeling","T-Box Domain Proteins","Mice","Paired Box Transcription Factors","PAX2 Transcription Factor"],"keywords":["Immunoglobulin superfamily","SUPERFAMILY","Antibody","Immunology","Medicine","Biology","Genetics","Receptor"],"sdg_mappings":[],"linked_datasets":[{"doi":"10.6084/m9.figshare.21269183.v1","title":"Additional file 1 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.21269183","title":"Additional file 1 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.21269195.v1","title":"Additional file 4 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.21269195","title":"Additional file 4 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.21269189.v1","title":"Additional file 3 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.21269186.v1","title":"Additional file 2 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.21269186","title":"Additional file 2 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.21269189","title":"Additional file 3 of Genomic insight into the nocturnal adaptation of the black-crowned night heron (Nycticorax nycticorax)","publisher":"figshare","resource_type":"Dataset"}],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-07T23:12:07.558271Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}