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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 bone structure
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Accession:MP:0003795 term browser browse the term
Definition:anomaly in the composite material or the layered arrangement of the bony endoskeleton of the body


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abnormal bone marrow cavity 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 bone trabecula morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsb arylsulfatase B IAGP RGD PMID:21887218 RGD:39131283 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
abnormal trabecular bone morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsb arylsulfatase B IAGP RGD PMID:21887218 RGD:39131283 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
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
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka IMP RGD PMID:32231239 RGD:32716373
decreased bone mineral density term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IMP RGD PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
decreased bone trabecula number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari IMP RGD PMID:32833527 RGD:40902996
decreased compact bone volume 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
decreased osteoclast cell number term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
decreased trabecular bone mass term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
decreased trabecular bone thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
decreased trabecular bone volume 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 Lepr leptin receptor IMP RGD PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
increased bone mineral density 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
increased bone mineral density of femur 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
increased bone trabecular spacing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IMP RGD PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G Lrp5 LDL receptor related protein 5 sexual_dimorphism IMP RGD PMID:32833527 PMID:32833527 RGD:40902996, 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 sexual_dimorphism IMP RGD PMID:32833527 RGD:40902996
G Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari sexual_dimorphism IMP RGD PMID:32833527 RGD:40902996
increased compact bone thickness 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
increased trabecular bone connectivity density term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5380
    skeleton phenotype 434
      abnormal skeleton morphology 339
        abnormal bone structure 195
          abnormal bone collagen fibril morphology 0
          abnormal bone marrow cavity morphology + 3
          abnormal bone marrow morphology + 0
          abnormal bone mineral content + 5
          abnormal bone mineral density + 100
          abnormal bone volume + 8
          abnormal compact bone morphology + 12
          abnormal osteoblast morphology + 0
          abnormal osteoclast morphology + 4
          abnormal osteocyte lacunocanalicular system morphology + 0
          abnormal periosteum morphology + 0
          abnormal susceptibility to osteoporosis + 0
          abnormal trabecular bone morphology + 23
          bone fibrous dysplasia + 0
          decreased bone mass + 44
          exostosis 0
          increased bone mass + 0
          osteophytes 0
          osteosclerosis 0
paths to the root