Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal limb bone morphology
go back to main search page
Accession:MP:0002115 term browser browse the term
Definition:any structural anomaly of the limb or autopod bones
Synonyms:exact_synonym: abnormal skeleton extremities morphology;   dysplastic skeletal extremities;   skeletal: extremities defects
 xref: MGI:2173563


show annotations for term's descendants           Sort by:
abnormal femur morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment IMP compared to Jcl:Wi and untreated RGD PMID:32231239 RGD:32716373 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP compared to Jcl:Wi and untreated RGD PMID:32231239 RGD:32716373
G Lrp5 LDL receptor related protein 5 IMP RGD PMID:32833527 RGD:40902996 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrp5em1Vari LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em2Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari IMP RGD PMID:32833527 RGD:40902996
G Vdr vitamin D receptor IMP RGD PMID:32231239 RGD:32716373 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka IMP RGD PMID:32231239 RGD:32716373
short femur term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:29190650 RGD:151347176 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:29190650 RGD:151347176
G Nppc natriuretic peptide C IMP compared to wild type RGD PMID:29566041 RGD:127284867 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Nppcem3Kyo natriuretic peptide C; ZFN induced mutant 3, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
G Nppcem4Kyo natriuretic peptide C; ZFN induced mutant 4, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
short radius term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppc natriuretic peptide C IMP compared to wild type RGD PMID:29566041 RGD:127284867 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Nppcem3Kyo natriuretic peptide C; ZFN induced mutant 3, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
G Nppcem4Kyo natriuretic peptide C; ZFN induced mutant 4, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
short tibia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppc natriuretic peptide C IMP compared to wild type RGD PMID:29566041 RGD:127284867 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Nppcem3Kyo natriuretic peptide C; ZFN induced mutant 3, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
G Nppcem4Kyo natriuretic peptide C; ZFN induced mutant 4, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5428
    limbs/digits/tail phenotype 76
      abnormal limb morphology 67
        abnormal limb bone morphology 38
          abnormal carpal bone morphology + 0
          abnormal limb long bone morphology + 38
          abnormal patella morphology + 0
          abnormal sesamoid bone of gastrocnemius morphology + 0
          abnormal tarsal bone morphology + 0
Path 2
Term Annotations click to browse term
  mammalian phenotype 5428
    skeleton phenotype 434
      abnormal skeleton morphology 339
        abnormal appendicular skeleton morphology 43
          abnormal limb bone morphology 38
            abnormal carpal bone morphology + 0
            abnormal limb long bone morphology + 38
            abnormal patella morphology + 0
            abnormal sesamoid bone of gastrocnemius morphology + 0
            abnormal tarsal bone morphology + 0
paths to the root