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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 limb bone morphology
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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 7:62,869,340...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
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 5372
    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 5372
    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