{"doi":"10.1038/ng0393-241","title":"A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene","abstract":null,"journal":"Nature Genetics","year":1993,"id":651205,"datarank":0.9856324443509378,"base_score":6.570882962339584,"endowment":6.570882962339584,"self_citation_contribution":0.9856324443509378,"citation_network_contribution":0.0,"self_endowment_contribution":0.9856324443509378,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":713,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":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":144419,"name":"Alexandra L. Joyner","orcid":null,"position":1,"is_corresponding":false},{"id":1698236,"name":"Chi-chung Hui","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene","abstract":"Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development. Recently, the human GLI3 gene has been proposed to be a candidate gene for GCPS. Here we describe the molecular characterization of extra-toes (Xt), which is a mouse model of GCPS. The Xt heterozygotes show craniofacial defects and a polydactyly phenotype similar to GCPS. We show that a deficiency of Gli3 expression in the XtJ mutant is due to a deletion within the 3' end of the gene. Furthermore, structures affected in the mouse mutant and human syndrome were found to correlate with expression domains of Gli3 in mouse. These results strongly suggest that the deficiency of GLI3 function leads to GCPS.","is_dataset_classified":null,"base_score":6.570882962339584,"endowment":6.570882962339584,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"8387379","pmcid":null,"openalex_id":"https://openalex.org/W2019150363","authors":[],"funders":[],"total_grants":0,"fwci":6.4816,"citation_percentile":0.97614113,"influential_citations":0,"citation_trend":[{"year":2012,"count":29},{"year":2013,"count":18},{"year":2014,"count":16},{"year":2015,"count":21},{"year":2016,"count":22},{"year":2017,"count":16},{"year":2018,"count":18},{"year":2019,"count":11},{"year":2020,"count":26},{"year":2021,"count":16},{"year":2022,"count":10},{"year":2023,"count":4},{"year":2024,"count":3},{"year":2025,"count":6},{"year":2026,"count":1}],"oa_status":"closed","license":"http://www.springer.com/tdm","oa_locations":[{"url":"http://www.nature.com/articles/ng0393-241","host_type":"publisher"},{"url":"http://www.nature.com/articles/ng0393-241.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1038/ng0393-241","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/8387379","host_type":"repository"}],"fields_of_study":["Hedgehog Signaling Pathway Studies","Cancer and Skin Lesions","Congenital limb and hand anomalies"],"mesh_terms":["Alleles","Animals","Disease Models, Animal","DNA","Embryo, Mammalian","Facial Bones","Homozygote","Humans","Introns","Mice, Inbred C3H","Mice, Mutant Strains","Phenotype","Skull","Syndactyly","Syndrome","Blotting, Southern","Gene Deletion","Mice"],"keywords":["GLI3","Polydactyly","Biology","Craniofacial","Genetics","Mutant","Mutation","Gene","Phenotype","Gene expression","Repressor"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-10T06:50:09.473786Z","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":[]}