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 head morphology
go back to main search page
Accession:MP:0000432 term browser browse the term
Definition:any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
Synonyms:exact_synonym: head abnormalities
 broad_synonym: Abnormality of the head
 xref: HP:0000234


show annotations for term's descendants           Sort by:
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 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		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 head shape term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
abnormal head size term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
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 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		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 via death domain IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		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 nasal mucosa morphology 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 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
abnormal nose morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP RGD PMID:7981749 RGD:1601213 NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763 		JBrowse link
G Pax6Sey paired box gene 6, small eye mutation IAGP RGD PMID:7981749 RGD:1601213
abnormal tongue morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762 NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361 		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 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		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 2:198,065,400...198,084,774
Ensembl chr 2:198,065,405...198,084,468 		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 chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:33450391 RGD:126781687
flat head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase IAGP RGD PMID:10219263 RGD:13204836 NCBI chr12:46,263,881...46,425,642
Ensembl chr12:46,266,369...46,424,656 		JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:10219263 RGD:13204836
increased tongue size term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to Wild type RGD PMID:29979634 RGD:401976416
long tongue term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to Wild type RGD PMID:29979634 RGD:401976416
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:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		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 chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
shortened head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a6 solute carrier family 9 member A6 IMP RGD PMID:34928329 RGD:151664747 NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:139,458,127...139,524,109 		JBrowse link
G Slc9a6 em1Moro solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro IMP RGD PMID:34928329 RGD:151664747
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 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763 		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 5432
    growth/size/body region phenotype 840
      abnormal head morphology 55
        abnormal facial morphology + 46
        abnormal head development + 0
        abnormal head shape + 9
        abnormal head size + 3
        abnormal head skin morphology + 0
        abnormal horn morphology + 0
        abnormal outer ear morphology + 0
        abnormal scalp morphology 0
        acephaly 0
        greasy head/neck 0
paths to the root