{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002922211,0.00127958,0.0005254123,0.00217491,0.0004810494,0.0004246012,0.0005821222,0.001622935,0.004916208],"category_scores_gemma":[0.0001918783,0.0005194363,0.001026151,0.0004600278,0.0008693011,0.0004344255,0.0005576241,0.001380705,0.001226933],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003584732,"about_ca_system_score_gemma":0.0004047033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001075109,"about_ca_topic_score_gemma":0.001215608,"domain_scores_codex":[0.9994853,0.00004970847,0.0001024251,0.0001505618,0.0001366151,0.00007533113],"domain_scores_gemma":[0.9996542,0.00003108809,0.0001216122,0.00003006255,0.00003350456,0.0001294612],"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":[0.0003641959,0.0001405476,0.001271913,0.0001495301,0.00005494893,0.00375786,0.0001079013,0.0001232029,0.990888,0.0006493402,0.0003673322,0.00212524],"study_design_scores_gemma":[0.0006501313,0.002045424,0.03905099,0.000164484,0.0004435845,0.03578006,0.0004687756,0.003882506,0.8807749,0.001332431,0.03532273,0.00008393717],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784729,0.002154439,0.008866813,0.0007317737,0.0003661443,0.0001771245,0.004355533,0.0008118515,0.004063402],"genre_scores_gemma":[0.9598408,0.00254275,0.01010911,0.0004673905,0.0001049536,0.00045141,0.006731897,0.0003273343,0.01942451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004916208,"threshold_uncertainty_score":0.01644641,"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."}}