{"id":"W2166027061","doi":"10.1093/hmg/ddv137","title":"Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies","year":2015,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute","keywords":"Ciliopathy; Joubert syndrome; Biology; Ciliopathies; Cilium; Cell biology; Mutant; Haploinsufficiency; Ciliogenesis; Intraflagellar transport; Mutation; Anatomy; Genetics; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001187914,0.0002670221,0.0002559083,0.00007150825,0.00007008661,0.00002676625,0.0001143189,0.0001857327,0.000004000724],"category_scores_gemma":[0.00001685567,0.0002529589,0.00005863395,0.00007599793,0.0002881455,0.000003973524,0.00008002453,0.00007293934,0.000001064631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007736372,"about_ca_system_score_gemma":0.0001113195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002067627,"about_ca_topic_score_gemma":0.00002456656,"domain_scores_codex":[0.9987482,0.00005359096,0.00027171,0.0004430884,0.0002314442,0.0002519993],"domain_scores_gemma":[0.9990726,0.000003338511,0.0001043187,0.000396314,0.0001357656,0.000287701],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00009225082,0.0001179247,0.001170226,0.00006583009,0.00009392109,0.00001933143,0.0003435441,0.004565963,0.993387,0.00008065945,0.0000260791,0.00003731402],"study_design_scores_gemma":[0.004372225,0.002145732,0.003672655,0.00007763898,0.0003868351,0.0004821284,0.0004302636,0.004587126,0.9821924,0.0005998838,0.0002994867,0.0007536463],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9841272,0.003241154,0.0119261,0.00002481581,0.00001542678,0.0002859674,0.0001200495,0.00001520478,0.000244127],"genre_scores_gemma":[0.996078,0.0001183013,0.003263078,0.0002154896,0.00001251764,0.00001312256,0.00006908146,0.0000600185,0.0001703856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01195085,"threshold_uncertainty_score":0.9999923,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01417676334401816,"score_gpt":0.215804321204864,"score_spread":0.2016275578608458,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}