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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 long bone morphology
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Accession:MP:0003723 term browser browse the term
Definition:any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles
Synonyms:narrow_synonym: long bone dysplasia


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abnormal long bone morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 IAGP RGD PMID:12379742 RGD:628338 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
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 7:62,869,340...62,876,242
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 1:200,814,247...200,917,581
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 7:128,987,981...129,037,677
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
abnormal long bone hypertrophic chondrocyte zone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 IAGP DNA:deletion:cds (rat) RGD PMID:15466490 RGD:150429792 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888 		JBrowse link
decreased length of long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		JBrowse link
decreased width of hypertrophic chondrocyte zone 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 9:87,320,051...87,324,251
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
increased long bone epiphyseal plate size term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 IAGP DNA:deletion:cds (rat) RGD PMID:15466490 RGD:150429792 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888 		JBrowse link
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 4:46,561,269...46,728,759
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 9:87,320,051...87,324,251
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 9:87,320,051...87,324,251
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 9:87,320,051...87,324,251
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 5420
    skeleton phenotype 434
      abnormal skeleton morphology 339
        abnormal appendicular skeleton morphology 43
          abnormal long bone morphology 43
            abnormal clavicle morphology + 0
            abnormal limb long bone morphology + 38
            abnormal long bone diaphysis morphology 0
            abnormal long bone epiphyseal plate morphology + 7
            abnormal long bone epiphysis morphology + 0
            abnormal long bone internal diameter + 0
            abnormal long bone metaphysis morphology 0
            decreased diameter of long bones + 0
            decreased length of long bones + 14
            increased diameter of long bones + 0
            increased length of long bones + 4
paths to the root