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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:agnathia
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Accession:MP:0030268 term browser browse the term
Definition:congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia
Synonyms:exact_synonym: absent jaw;   absent jaws


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agnathia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:24785830 NCBI chr11:6,427,226...6,444,511
Ensembl chr11:6,427,229...6,444,443
JBrowse link
G Hhat hedgehog acyltransferase IAGP MGI PMID:23055936 NCBI chr 1:192,512,825...192,771,219
Ensembl chr 1:192,496,711...192,771,223
JBrowse link
G Pcsk6 proprotein convertase subtilisin/kexin type 6 IAGP MGI PMID:10809672 NCBI chr 7:65,862,136...66,050,386
Ensembl chr 7:65,861,734...66,050,386
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 IAGP MGI PMID:15013800 NCBI chr17:65,923,065...65,951,187
Ensembl chr17:65,921,972...65,951,226
JBrowse link
absent mandible term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator IAGP MGI PMID:20084116 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:14681194 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes IAGP MGI PMID:17504941 NCBI chr 9:35,421,528...35,507,652
Ensembl chr 9:35,421,128...35,507,652
JBrowse link
G Chrd chordin IAGP MGI PMID:10688202, PMID:19247433 NCBI chr16:20,731,425...20,742,384
Ensembl chr16:20,733,127...20,742,384
JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like IAGP MGI PMID:23469164 NCBI chr16:17,451,985...17,487,440
Ensembl chr16:17,451,987...17,487,434
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 IAGP MGI PMID:21087601, PMID:22190459 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IAGP MGI PMID:11702953 NCBI chr19:30,545,876...30,549,496
Ensembl chr19:30,545,863...30,549,665
JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 IAGP MGI PMID:23187127 NCBI chr 1:191,005,832...191,026,190
Ensembl chr 1:191,005,847...191,026,158
JBrowse link
G Foxh1 forkhead box H1 IEA MGI NCBI chr15:76,667,829...76,671,614
Ensembl chr15:76,668,225...76,669,948
JBrowse link
G Foxq1 forkhead box Q1 IAGP MGI PMID:16109771 NCBI chr13:31,558,170...31,560,976
Ensembl chr13:31,556,134...31,560,976
JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17504941 NCBI chr13:60,174,405...60,177,535
Ensembl chr13:60,174,405...60,177,365
JBrowse link
G Gdf1 growth differentiation factor 1 IAGP MGI PMID:16564040 NCBI chr 8:70,315,775...70,331,592
Ensembl chr 8:70,315,775...70,331,592
Ensembl chr 8:70,315,775...70,331,592
JBrowse link
G Gjb2 gap junction protein, beta 2 IAGP MGI PMID:21807945 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gldc glycine decarboxylase IEA MGI NCBI chr19:30,098,441...30,175,441
Ensembl chr19:30,098,447...30,175,429
JBrowse link
G Gpc3 glypican 3 IAGP MGI PMID:11846487 NCBI chr  X:52,272,426...52,613,974
Ensembl chr  X:52,272,426...52,613,950
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:22190459 NCBI chr 6:113,067,428...113,077,244
Ensembl chr 6:113,067,428...113,077,333
JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:18952847, PMID:19541608, PMID:22190459 NCBI chr11:6,427,226...6,444,511
Ensembl chr11:6,427,229...6,444,443
JBrowse link
G Hat1 histone aminotransferase 1 IAGP MGI PMID:23754951 NCBI chr 2:71,389,260...71,441,622
Ensembl chr 2:71,388,958...71,441,622
JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 IAGP MGI PMID:20713964 NCBI chr  X:106,920,625...106,933,899
Ensembl chr  X:106,920,625...106,933,900
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 IAGP MGI PMID:18952847 NCBI chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 IAGP MGI PMID:18952847 NCBI chr 7:126,759,626...126,765,816
Ensembl chr 7:126,759,601...126,765,819
JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:16020517, PMID:18385133 NCBI chr18:60,684,494...60,749,035
Ensembl chr18:60,684,494...60,748,650
JBrowse link
G Ndst3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 IAGP MGI PMID:18385133 NCBI chr 3:123,526,166...123,691,174
Ensembl chr 3:123,526,166...123,690,853
JBrowse link
G Nodal nodal IAGP MGI PMID:16564040 NCBI chr10:61,417,972...61,425,338
Ensembl chr10:61,417,972...61,425,338
JBrowse link
G Nog noggin IAGP MGI PMID:10688202 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Nubp2 nucleotide binding protein 2 IAGP MGI PMID:31733190 NCBI chr17:24,882,611...24,886,350
Ensembl chr17:24,882,611...24,886,349
JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:7590242 NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819
JBrowse link
G Pgap1 post-GPI attachment to proteins 1 IAGP MGI PMID:4019727, PMID:10529425 NCBI chr 1:54,473,000...54,557,684
Ensembl chr 1:54,472,994...54,557,684
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MGI PMID:19541608 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:18213582 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Smad2 SMAD family member 2 IAGP MGI PMID:9655392 NCBI chr18:76,241,090...76,311,748
Ensembl chr18:76,241,580...76,310,963
JBrowse link
G Sulf1 sulfatase 1 IAGP MGI PMID:18213582 NCBI chr 1:12,692,197...12,861,192
Ensembl chr 1:12,692,277...12,861,192
JBrowse link
G Sulf2 sulfatase 2 IAGP MGI PMID:18213582 NCBI chr 2:166,073,899...166,155,683
Ensembl chr 2:166,073,089...166,155,663
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 IAGP MGI PMID:14681194 NCBI chr17:65,923,065...65,951,187
Ensembl chr17:65,921,972...65,951,226
JBrowse link
G Zic5 zinc finger protein of the cerebellum 5 IAGP MGI PMID:15736266 NCBI chr14:122,459,160...122,465,658
Ensembl chr14:122,456,795...122,465,677
JBrowse link
absent maxilla term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 IAGP MGI PMID:22219353 NCBI chr 2:133,552,159...133,562,896
Ensembl chr 2:133,552,159...133,562,885
JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:22219353 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP MGI PMID:22219353 NCBI chr 2:172,868,012...172,940,321
Ensembl chr 2:172,868,012...172,940,321
JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes IAGP MGI PMID:17504941 NCBI chr 9:35,421,528...35,507,652
Ensembl chr 9:35,421,128...35,507,652
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 IAGP MGI PMID:21307168, PMID:22190459 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Ctnnbip1 catenin beta interacting protein 1 IAGP MGI PMID:15148409 NCBI chr 4:149,518,241...149,566,437
Ensembl chr 4:149,518,236...149,566,437
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IAGP MGI PMID:11702953 NCBI chr19:30,545,876...30,549,496
Ensembl chr19:30,545,863...30,549,665
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:10471511 NCBI chr 1:14,168,953...14,311,035
Ensembl chr 1:14,168,954...14,310,235
JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17504941 NCBI chr13:60,174,405...60,177,535
Ensembl chr13:60,174,405...60,177,365
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:22190459 NCBI chr 6:113,067,428...113,077,244
Ensembl chr 6:113,067,428...113,077,333
JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:22190459, PMID:22219353 NCBI chr11:6,427,226...6,444,511
Ensembl chr11:6,427,229...6,444,443
JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP MGI PMID:19776033 NCBI chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803
JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:9895322 NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819
JBrowse link
G Pgap1 post-GPI attachment to proteins 1 IAGP MGI PMID:17711852 NCBI chr 1:54,473,000...54,557,684
Ensembl chr 1:54,472,994...54,557,684
JBrowse link
G Psph phosphoserine phosphatase IEA MGI NCBI chr 5:129,765,558...129,787,443
Ensembl chr 5:129,765,558...129,787,449
JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:8622766 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 14921
    craniofacial phenotype 1527
      abnormal craniofacial morphology 1527
        abnormal craniofacial bone morphology 908
          abnormal cranium morphology 892
            abnormal viscerocranium morphology 642
              abnormal jaw morphology 581
                agnathia 46
                  absent mandible 37
                  absent maxilla 16
Path 2
Term Annotations click to browse term
  mammalian phenotype 14921
    skeleton phenotype 2949
      abnormal skeleton morphology 2699
        abnormal axial skeleton morphology 1476
          abnormal craniofacial bone morphology 908
            abnormal cranium morphology 892
              abnormal viscerocranium morphology 642
                abnormal jaw morphology 581
                  agnathia 46
                    absent mandible 37
                    absent maxilla 16
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.