{"id":"https://openalex.org/W16980203","doi":"https://doi.org/10.1093/oxfordjournals.jhered.a111373","title":"Synergistic Interactions Between Two Skeletal Mutations in Mice: Individual and Combined Effects of the Semidominants Cleidocranial Dysplasia (Ccd) and Short Digits (Dsh)","display_name":"Synergistic Interactions Between Two Skeletal Mutations in Mice: Individual and Combined Effects of the Semidominants Cleidocranial Dysplasia (Ccd) and Short Digits (Dsh)","publication_year":1993,"publication_date":"1993-11-01","ids":{"openalex":"https://openalex.org/W16980203","doi":"https://doi.org/10.1093/oxfordjournals.jhered.a111373","mag":"16980203","pmid":"https://pubmed.ncbi.nlm.nih.gov/8270769"},"language":"en","primary_location":{"id":"doi:10.1093/oxfordjournals.jhered.a111373","doi":"https://doi.org/10.1093/oxfordjournals.jhered.a111373","is_oa":false,"landing_page_url":"https://doi.org/10.1093/oxfordjournals.jhered.a111373","pdf_url":null,"source":{"id":"https://openalex.org/S84833568","display_name":"Journal of Heredity","issn_l":"0022-1503","issn":["0022-1503","1465-7333","1471-8505"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Heredity","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035767032","display_name":"Paul B. Selby","orcid":"https://orcid.org/0000-0002-7206-405X","observed_orcids":["https://orcid.org/0000-0002-7206-405X"]},"institutions":[{"id":"https://openalex.org/I1289243028","display_name":"Oak Ridge National Laboratory","ror":"https://ror.org/01qz5mb56","country_code":"US","type":"facility","lineage":["https://openalex.org/I1289243028","https://openalex.org/I1330989302","https://openalex.org/I39565521","https://openalex.org/I4210159294"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"P. B. Selby","raw_affiliation_strings":["Biology Division, Oak Ridge National Laboratory (ORNL), Tennessee","Biology Division, Oak Ridge National Laboratory (ORNL)Oak Ridge, Tennessee"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biology Division, Oak Ridge National Laboratory (ORNL), Tennessee","institution_ids":["https://openalex.org/I1289243028"]},{"raw_affiliation_string":"Biology Division, Oak Ridge National Laboratory (ORNL)Oak Ridge, Tennessee","institution_ids":["https://openalex.org/I1289243028"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025687616","display_name":"S. N. Bolch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I91045830","display_name":"Texas A&M University","ror":"https://ror.org/01f5ytq51","country_code":"US","type":"education","lineage":["https://openalex.org/I91045830"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. N. Bolch","raw_affiliation_strings":["The Texas Veterinary Medical Center, College of Veterinary Medicine, Texas A&M University College Station"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Texas Veterinary Medical Center, College of Veterinary Medicine, Texas A&M University College Station","institution_ids":["https://openalex.org/I91045830"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027508762","display_name":"V. S. Mierzejewski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1289243028","display_name":"Oak Ridge National Laboratory","ror":"https://ror.org/01qz5mb56","country_code":"US","type":"facility","lineage":["https://openalex.org/I1289243028","https://openalex.org/I1330989302","https://openalex.org/I39565521","https://openalex.org/I4210159294"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"V. S. Mierzejewski","raw_affiliation_strings":["Biology Division, Oak Ridge National Laboratory (ORNL) Oak Ridge, Tennessee"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biology Division, Oak Ridge National Laboratory (ORNL) Oak Ridge, Tennessee","institution_ids":["https://openalex.org/I1289243028"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038405171","display_name":"Thomas W. McKinley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1289243028","display_name":"Oak Ridge National Laboratory","ror":"https://ror.org/01qz5mb56","country_code":"US","type":"facility","lineage":["https://openalex.org/I1289243028","https://openalex.org/I1330989302","https://openalex.org/I39565521","https://openalex.org/I4210159294"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T. W. McKinley","raw_affiliation_strings":["Biology Division, Oak Ridge National Laboratory (ORNL) Oak Ridge, Tennessee"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biology Division, Oak Ridge National Laboratory (ORNL) Oak Ridge, Tennessee","institution_ids":["https://openalex.org/I1289243028"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021550249","display_name":"G D Raymer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1289243028","display_name":"Oak Ridge National Laboratory","ror":"https://ror.org/01qz5mb56","country_code":"US","type":"facility","lineage":["https://openalex.org/I1289243028","https://openalex.org/I1330989302","https://openalex.org/I39565521","https://openalex.org/I4210159294"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G. D. Raymer","raw_affiliation_strings":["Biology Division, Oak Ridge National Laboratory (ORNL) Oak Ridge, Tennessee"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biology Division, Oak Ridge National Laboratory (ORNL) Oak Ridge, Tennessee","institution_ids":["https://openalex.org/I1289243028"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3560,"currency":"USD","value_usd":3560},"apc_paid":null,"fwci":0.6836,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.57066667,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"84","issue":"6","first_page":"466","last_page":"474"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.3407999873161316,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.3407999873161316,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.14059999585151672,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.10769999772310257,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/synergistic-gene-interaction","display_name":"synergistic gene interaction","score":0.7139999866485596},{"id":"https://openalex.org/keywords/cleidocranial-dysplasia","display_name":"cleidocranial dysplasia","score":0.9589999914169312},{"id":"https://openalex.org/keywords/dominant-mutations","display_name":"dominant mutations","score":0.7860000133514404},{"id":"https://openalex.org/keywords/skeletal-deformities","display_name":"skeletal deformities","score":0.6959999799728394},{"id":"https://openalex.org/keywords/pleiotropy","display_name":"pleiotropy","score":0.9480000138282776},{"id":"https://openalex.org/keywords/homozygous-lethality","display_name":"homozygous lethality","score":0.7879999876022339},{"id":"https://openalex.org/keywords/congenic-mice","display_name":"congenic mice","score":0.6700000166893005},{"id":"https://openalex.org/keywords/variable-expressivity","display_name":"variable expressivity","score":0.5920000076293945}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7794530391693115},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7739737033843994},{"id":"https://openalex.org/C92811239","wikidata":"https://www.wikidata.org/wiki/Q20998670","display_name":"Expressivity","level":2,"score":0.7438785433769226},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.742831289768219},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.671330451965332},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6362438201904297},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.562042236328125},{"id":"https://openalex.org/C2908903051","wikidata":"https://www.wikidata.org/wiki/Q781618","display_name":"Cleidocranial Dysplasia","level":3,"score":0.494686096906662},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.42301851511001587},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.41348153352737427},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28087347745895386},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.23902690410614014},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.07043477892875671},{"id":"https://openalex.org/C77805123","wikidata":"https://www.wikidata.org/wiki/Q161272","display_name":"Social psychology","level":1,"score":0.0},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.0},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002973","descriptor_name":"Cleidocranial Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003433","descriptor_name":"Crosses, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005804","descriptor_name":"Genes, Lethal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008809","descriptor_name":"Mice, Inbred C3H","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014034","descriptor_name":"Toes","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/oxfordjournals.jhered.a111373","doi":"https://doi.org/10.1093/oxfordjournals.jhered.a111373","is_oa":false,"landing_page_url":"https://doi.org/10.1093/oxfordjournals.jhered.a111373","pdf_url":null,"source":{"id":"https://openalex.org/S84833568","display_name":"Journal of Heredity","issn_l":"0022-1503","issn":["0022-1503","1465-7333","1471-8505"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Heredity","raw_type":"journal-article"},{"id":"pmid:8270769","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8270769","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of heredity","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2060272225","https://openalex.org/W1952637035","https://openalex.org/W2019732553","https://openalex.org/W4392765091","https://openalex.org/W2075103621","https://openalex.org/W2087067207","https://openalex.org/W2125380048","https://openalex.org/W1981770612","https://openalex.org/W2621803659","https://openalex.org/W2800129489"],"abstract_inverted_index":{"Heterozygotes":[0],"for":[1],"cleidocranial":[2],"dysplasia":[3],"(Ccd)":[4],"and":[5,36,52],"short":[6],"digits":[7],"(Dsh)":[8],"were":[9,62,71,183],"crossed":[10],"to":[11,101,147,165,176],"test":[12],"whether":[13,149],"synergistic":[14,69,94,131,150,167],"interactions":[15,70,95,132,151,168,182],"occur":[16,117,153],"between":[17,96,154],"different":[18,50,68],"dominant":[19,97],"mutations":[20,32,98,129],"whose":[21],"individual":[22],"pleiotropic":[23],"phenotypic":[24],"effects":[25],"exhibit":[26],"a":[27],"common":[28],"feature.":[29],"These":[30],"unlinked":[31],"are":[33,38],"homozygous":[34],"lethal,":[35],"they":[37,116,158],"congenic":[39],"on":[40],"the":[41,90,113,126,134,173],"C57BL/10":[42],"background.":[43],"Each":[44,56],"mutation":[45,57],"caused":[46],"more":[47],"than":[48],"10":[49],"anomalies":[51],"showed":[53],"variable":[54],"expressivity.":[55],"produced":[58],"several":[59],"malformations":[60],"that":[61,75,115],"present":[63],"in":[64,87,106,110,118,123],"every":[65],"heterozygote.":[66],"Seven":[67],"found,":[72],"including":[73],"one":[74],"yielded":[76],"an":[77],"entirely":[78],"new":[79],"abnormality":[80],"not":[81],"predicted":[82],"from":[83,178],"any":[84],"abnormalities":[85],"found":[86],"either":[88],"of":[89,128,133],"single":[91],"heterozygotes.":[92],"Although":[93],"have":[99],"not,":[100],"our":[102],"knowledge,":[103],"been":[104],"described":[105],"humans,":[107],"these":[108],"findings":[109],"mice":[111],"increase":[112],"probability":[114],"humans.":[119],"Under":[120],"certain":[121],"circumstances":[122],"human":[124],"populations,":[125],"segregation":[127],"causing":[130],"type":[135],"demonstrated":[136],"might":[137],"be":[138,145],"confused":[139],"with":[140],"recessive":[141],"inheritance.":[142],"It":[143],"will":[144,161],"important":[146,164],"learn":[148],"can":[152],"other":[155],"mutations.":[156],"If":[157],"can,":[159],"it":[160],"probably":[162],"become":[163],"take":[166],"into":[169],"account":[170],"when":[171],"estimating":[172],"genetic":[174],"hazards":[175],"humans":[177],"mutagens.":[179],"Three":[180],"antagonistic":[181],"also":[184],"found.":[185]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}