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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 cranium morphology
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Accession:MP:0000438 term browser browse the term
Definition:any structural anomaly of the bones of the head
Synonyms:exact_synonym: abnormal cranium;   cranial abnormalities;   cranium dysplasia
 broad_synonym: skull anomaly, congenital
 related_synonym: abnormal skull;   abnormal skull morphology;   skull abnormalities;   skull anomaly
 xref: Fyler:4134;   MA:0000316



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abnormal enamel development 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:31942562 RGD:126928119 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
abnormal incisor color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP RGD PMID:27071940 RGD:12910550 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfe2l2em1Kyo nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 1, Kyoto University IMP RGD PMID:27071940 RGD:12910550
G Nfe2l2em2Kyo nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 2, Kyoto University IMP RGD PMID:27071940 RGD:12910550
abnormal molar cusp morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR-associated death domain IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
abnormal tooth color 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:24608905 RGD:11566051 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:24608905 RGD:11566051
absent teeth 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
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:33450391 RGD:126781687 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:33450391 RGD:126781687
decreased cranium length 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
malocclusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 sexual_dimorphism IMP compared to female heterozygote mutant RGD PMID:27313794 PMID:27329765 RGD:11568037, RGD:40924662 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs sexual_dimorphism IMP compared to female heterozygote mutant RGD PMID:27329765 PMID:27313794 RGD:40924662, RGD:11568037
microdontia 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
small neurocranium 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:19149413 RGD:150429793 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
JBrowse link
supernumerary incisors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP RGD PMID:16795023 RGD:12790971 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pax6Sey2 paired box gene 6, small eye mutation 2 IAGP RGD PMID:16795023 RGD:12790971

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5368
    craniofacial phenotype 47
      abnormal craniofacial morphology 47
        abnormal craniofacial bone morphology 37
          abnormal cranium morphology 36
            abnormal basicranium morphology + 0
            abnormal cranial cartilage morphology + 0
            abnormal cranial cavity morphology + 0
            abnormal cranial foramen morphology + 0
            abnormal cranial suture morphology + 0
            abnormal cranial vertex morphology 0
            abnormal cranium size + 5
            abnormal neurocranium morphology + 2
            abnormal orbit morphology + 0
            abnormal viscerocranium morphology + 29
            acrania 0
            anterior cranium occultum 0
            cranial bossing + 0
            cranioschisis 0
            domed cranium 0
            ectopic cranial bone 0
Path 2
Term Annotations click to browse term
  mammalian phenotype 5368
    skeleton phenotype 431
      abnormal skeleton morphology 336
        abnormal axial skeleton morphology 43
          abnormal craniofacial bone morphology 37
            abnormal cranium morphology 36
              abnormal basicranium morphology + 0
              abnormal cranial cartilage morphology + 0
              abnormal cranial cavity morphology + 0
              abnormal cranial foramen morphology + 0
              abnormal cranial suture morphology + 0
              abnormal cranial vertex morphology 0
              abnormal cranium size + 5
              abnormal neurocranium morphology + 2
              abnormal orbit morphology + 0
              abnormal viscerocranium morphology + 29
              acrania 0
              anterior cranium occultum 0
              cranial bossing + 0
              cranioschisis 0
              domed cranium 0
              ectopic cranial bone 0
paths to the root