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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 midbrain development
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Accession:MP:0003864 term browser browse the term
Definition:anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo
Synonyms:exact_synonym: abnormal mesencephalon development


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abnormal midbrain development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr5 ARP5 actin-related protein 5 IEA MGI NCBI chr 2:158,466,800...158,481,131
Ensembl chr 2:158,466,808...158,481,131 		JBrowse link
G Alg10b ALG10 alpha-1,2-glucosyltransferase IEA MGI NCBI chr15:90,108,506...90,117,674
Ensembl chr15:90,108,514...90,117,674 		JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 IEA MGI NCBI chr12:36,207,123...36,247,290
Ensembl chr12:36,207,113...36,247,290 		JBrowse link
G Atp1b3 ATPase, Na+/K+ transporting, beta 3 polypeptide IEA MGI NCBI chr 9:96,214,708...96,246,368
Ensembl chr 9:96,214,708...96,246,495 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEA MGI NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 IEA MGI NCBI chr14:20,753,095...20,754,493
Ensembl chr14:20,753,074...20,754,493 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 IAGP MGI PMID:25328912 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G Ctbp2 C-terminal binding protein 2 IAGP MGI PMID:12101226 NCBI chr 7:132,588,727...132,726,048
Ensembl chr 7:132,589,292...132,726,083 		JBrowse link
G Dsp desmoplakin IEA MGI NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Egr1 early growth response 1 IEA MGI NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G En1 engrailed 1 IAGP MGI PMID:7925010 PMID:12367504 NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721 		JBrowse link
G Faf2 Fas associated factor family member 2 IEA MGI NCBI chr13:54,769,597...54,811,876
Ensembl chr13:54,769,597...54,811,876 		JBrowse link
G Fhod3 formin homology 2 domain containing 3 IEA MGI NCBI chr18:24,841,445...25,266,564
Ensembl chr18:24,841,680...25,266,558 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 IAGP MGI PMID:9247335 PMID:12367504 NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901 		JBrowse link
G Glmn glomulin, FKBP associated protein IEA MGI NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like IEA MGI NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial IEA MGI NCBI chr 8:96,590,761...96,615,029
Ensembl chr 8:96,590,762...96,615,175 		JBrowse link
G Gpr161 G protein-coupled receptor 161 IAGP MGI PMID:34887903 NCBI chr 1:165,108,760...165,154,314
Ensembl chr 1:165,123,358...165,154,314 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 IEA MGI NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:21246653 PMID:21502507 PMID:23134367 PMID:34887903 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase IEA MGI NCBI chr 1:52,884,197...52,960,145
Ensembl chr 1:52,884,088...52,960,145 		JBrowse link
G Ift43 intraflagellar transport 43 IEA MGI NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
G Ift52 intraflagellar transport 52 IEA MGI NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061 		JBrowse link
G Ift88 intraflagellar transport 88 IAGP MGI PMID:10804177 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Ipo9 importin 9 IEA MGI NCBI chr 1:135,310,050...135,358,260
Ensembl chr 1:135,310,050...135,358,237 		JBrowse link
G Junb jun B proto-oncogene IEA MGI NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Mid1 midline 1 IAGP MGI PMID:20181585 NCBI chr  X:168,468,178...168,773,692
Ensembl chr  X:168,468,195...168,773,794 		JBrowse link
G Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IEA MGI NCBI chr11:119,989,760...119,991,250
Ensembl chr11:119,989,754...119,991,531 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 IEA MGI NCBI chr 3:32,791,206...32,805,708
Ensembl chr 3:32,791,139...32,805,715 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 IAGP MGI PMID:9520484 PMID:10506516 NCBI chr 2:56,996,845...57,014,152
Ensembl chr 2:56,996,842...57,014,015 		JBrowse link
G Nr6a1 nuclear receptor subfamily 6, group A, member 1 IEA MGI NCBI chr 2:38,613,381...38,816,464
Ensembl chr 2:38,613,382...38,817,700 		JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:9811592 PMID:9895322 PMID:11532921 PMID:11731460 PMID:19615442 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pax3 paired box 3 IAGP MGI PMID:4826095 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcgf1 polycomb group ring finger 1 IEA MGI NCBI chr 6:83,047,573...83,057,836
Ensembl chr 6:83,054,850...83,057,836 		JBrowse link
G Pcnp PEST proteolytic signal containing nuclear protein IEA MGI NCBI chr16:55,835,870...55,851,590
Ensembl chr16:55,827,608...55,850,102 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q IEA MGI NCBI chr17:26,145,398...26,161,855
Ensembl chr17:26,145,395...26,163,910 		JBrowse link
G Pole2 polymerase (DNA directed), epsilon 2 (p59 subunit) IEA MGI NCBI chr12:69,248,547...69,274,979
Ensembl chr12:69,248,547...69,274,969 		JBrowse link
G Ppp1r35 protein phosphatase 1, regulatory subunit 35 IEA MGI NCBI chr 5:137,777,138...137,778,372
Ensembl chr 5:137,777,111...137,778,372 		JBrowse link
G Psen1 presenilin 1 IAGP MGI PMID:10557208 NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973 		JBrowse link
G Psen2 presenilin 2 IAGP MGI PMID:10557208 NCBI chr 1:180,054,569...180,091,030
Ensembl chr 1:180,054,569...180,091,003 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A IEA MGI NCBI chr19:4,245,195...4,251,710
Ensembl chr19:4,245,195...4,251,661 		JBrowse link
G Rest RE1-silencing transcription factor IAGP MGI PMID:9771705 NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279 		JBrowse link
G Rgl1 ral guanine nucleotide dissociation stimulator,-like 1 IEA MGI NCBI chr 1:152,392,513...152,642,056
Ensembl chr 1:152,392,511...152,642,102 		JBrowse link
G Rhoa ras homolog family member A IAGP MGI PMID:21502507 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
G Rybp RING1 and YY1 binding protein IAGP MGI PMID:16055728 NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446 		JBrowse link
G Sass6 SAS-6 centriolar assembly protein IEA MGI NCBI chr 3:116,388,577...116,424,816
Ensembl chr 3:116,388,631...116,424,653 		JBrowse link
G Slc30a9 solute carrier family 30 (zinc transporter), member 9 IEA MGI NCBI chr 5:67,464,298...67,513,485
Ensembl chr 5:67,464,298...67,515,786 		JBrowse link
G Slc35b4 solute carrier family 35, member B4 IEA MGI NCBI chr 6:34,132,810...34,153,921
Ensembl chr 6:34,130,315...34,154,046 		JBrowse link
G Slc39a4 solute carrier family 39 (zinc transporter), member 4 IEA MGI NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 IEA MGI NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		JBrowse link
G Ssbp3 single-stranded DNA binding protein 3 IAGP MGI PMID:15857913 NCBI chr 4:106,768,667...106,906,891
Ensembl chr 4:106,767,898...106,906,891 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling IAGP MGI PMID:16459298 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 IAGP MGI PMID:10888597 NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP MGI PMID:23283079 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		JBrowse link
G Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 IEA MGI NCBI chr 1:36,179,109...36,283,407
Ensembl chr 1:36,179,108...36,283,801 		JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 IEA MGI NCBI chr19:8,857,378...8,858,297
Ensembl chr19:8,857,378...8,858,287 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:4477997 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
G Wls wntless WNT ligand secretion mediator IAGP MGI PMID:21246653 NCBI chr 3:159,545,287...159,644,302
Ensembl chr 3:159,545,309...159,644,300 		JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 IAGP MGI PMID:2205396 PMID:9353119 NCBI chr15:98,687,738...98,691,711
Ensembl chr15:98,687,738...98,691,718 		JBrowse link
G Wnt3a wingless-type MMTV integration site family, member 3A IAGP MGI PMID:9353119 NCBI chr11:59,138,859...59,181,579
Ensembl chr11:59,138,859...59,181,578 		JBrowse link
abnormal cranial flexure morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 IAGP MGI PMID:9216040 NCBI chr10:90,825,173...90,918,688
Ensembl chr10:90,825,173...90,918,632 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 IAGP MGI PMID:19004860 PMID:34211969 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 IAGP MGI PMID:9362461 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Ift57 intraflagellar transport 57 IAGP MGI PMID:17027958 NCBI chr16:49,519,657...49,585,489
Ensembl chr16:49,519,596...49,585,489 		JBrowse link
G Ift88 intraflagellar transport 88 IAGP MGI PMID:14603322 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Intu inturned planar cell polarity protein IAGP MGI PMID:20067783 NCBI chr 3:40,585,559...40,659,206
Ensembl chr 3:40,585,435...40,659,204 		JBrowse link
G Rest RE1-silencing transcription factor IAGP MGI PMID:23022299 NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279 		JBrowse link
G Ttbk2 tau tubulin kinase 2 IAGP MGI PMID:30532139 NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085 		JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 IAGP MGI PMID:2205396 NCBI chr15:98,687,738...98,691,711
Ensembl chr15:98,687,738...98,691,718 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 16982
    nervous system phenotype 4648
      abnormal nervous system morphology 3676
        abnormal nervous system development 1580
          abnormal brain development 826
            abnormal midbrain development 66
              abnormal cranial flexure morphology 9
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