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 Behavioral & Substance Use Disorder 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:coloboma
go back to main search page
Accession:MP:0005262 term browser browse the term
Definition:anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation
Synonyms:narrow_synonym: Chorioretinal coloboma
 xref: Fyler:4311;   HP:0000567;   HP:0000589


show annotations for term's descendants           Sort by:
coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap35 Rho GTPase activating protein 35 IAGP MGI PMID:11044403 NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918 		JBrowse link
G Atmin ATM interactor IAGP MGI PMID:25294941 NCBI chr 8:117,670,132...117,687,184
Ensembl chr 8:117,670,132...117,687,184 		JBrowse link
G Axin2 axin 2 IAGP MGI PMID:27701636 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Ccp110 centriolar coiled coil protein 110 IAGP MGI PMID:26965371 NCBI chr 7:118,311,740...118,336,247
Ensembl chr 7:118,311,775...118,336,247 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:26670829 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 IEA MGI NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated IAGP MGI PMID:27701636 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Dynll1 dynein light chain LC8-type 1 IAGP MGI PMID:25294941 NCBI chr 5:115,435,129...115,438,995
Ensembl chr 5:115,435,169...115,439,058 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 IEA MGI NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 IAGP MGI PMID:21507892 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576 		JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:11456441 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 IAGP MGI PMID:21377456 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:17470285 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:25451153 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Ift88 intraflagellar transport 88 IAGP MGI PMID:19036983 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4963367 PMID:11929848 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Nf2 neurofibromin 2 IAGP MGI PMID:33075808 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nosip nitric oxide synthase interacting protein IAGP MGI PMID:25546391 NCBI chr 7:44,711,840...44,727,927
Ensembl chr 7:44,711,853...44,727,634 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 IAGP MGI PMID:20147377 NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IAGP MGI PMID:20147377 NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483 		JBrowse link
G Ntn1 netrin 1 IAGP MGI PMID:31162046 NCBI chr11:68,100,190...68,277,652
Ensembl chr11:68,100,190...68,291,649 		JBrowse link
G Pax2 paired box 2 IAGP MGI PMID:8951055 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:103464 PMID:3794606 PMID:9166583 PMID:22240097 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Phactr4 phosphatase and actin regulator 4 IAGP MGI PMID:17609112 NCBI chr 4:132,083,233...132,149,765
Ensembl chr 4:132,083,234...132,149,800 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N IEA MGI NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402 		JBrowse link
G Porcn porcupine O-acyltransferase IAGP MGI PMID:25451153 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		JBrowse link
G Rala v-ral simian leukemia viral oncogene A (ras related) IEA MGI NCBI chr13:18,055,160...18,118,802
Ensembl chr13:18,055,156...18,118,824 		JBrowse link
G Ranbp1 RAN binding protein 1 IAGP MGI PMID:25452572 NCBI chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596 		JBrowse link
G Rybp RING1 and YY1 binding protein IAGP MGI PMID:17470285 NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446 		JBrowse link
G Slc13a4 solute carrier family 13 (sodium/sulfate symporters), member 4 IAGP MGI PMID:26292834 NCBI chr 6:35,244,888...35,285,061
Ensembl chr 6:35,244,892...35,285,066 		JBrowse link
G Smg9 SMG9 nonsense mediated mRNA decay factor IEA MGI NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like IAGP MGI PMID:34302166 NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
G Tmem163 transmembrane protein 163 IAGP MGI PMID:17470285 NCBI chr 1:127,418,079...127,605,758
Ensembl chr 1:127,414,283...127,607,285 		JBrowse link
G Trp53bp2 transformation related protein 53 binding protein 2 IAGP MGI PMID:27447114 NCBI chr 1:182,236,737...182,289,997
Ensembl chr 1:182,236,737...182,289,997 		JBrowse link
G Vax1 ventral anterior homeobox 1 IAGP MGI PMID:10601035 PMID:10601036 PMID:15905411 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488 		JBrowse link
G Vax2 ventral anterior homeobox 2 IAGP MGI PMID:11830579 PMID:15905411 NCBI chr 6:83,688,221...83,715,295
Ensembl chr 6:83,688,246...83,715,295 		JBrowse link
ciliary body coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 IAGP MGI PMID:19509472 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19509472 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
iris coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP MGI PMID:12149478 NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 IAGP MGI PMID:19509472 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G Glce glucuronyl C5-epimerase IAGP MGI PMID:12788935 NCBI chr 9:61,964,526...62,029,891
Ensembl chr 9:61,964,530...62,029,937 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19509472 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hs2st1 heparan sulfate 2-O-sulfotransferase 1 IAGP MGI PMID:9637690 NCBI chr 3:144,135,462...144,275,977
Ensembl chr 3:144,135,467...144,275,942 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:10196361 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kif20b kinesin family member 20B IAGP MGI PMID:21214893 NCBI chr19:34,899,735...34,953,150
Ensembl chr19:34,899,761...34,953,145 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 IEA MGI NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Myo10 myosin X IEA MGI NCBI chr15:25,622,636...25,813,759
Ensembl chr15:25,622,611...25,813,759 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:16020517 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:9240560 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Slc13a4 solute carrier family 13 (sodium/sulfate symporters), member 4 IAGP MGI PMID:26292834 NCBI chr 6:35,244,888...35,285,061
Ensembl chr 6:35,244,892...35,285,066 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IAGP MGI PMID:21750680 NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
optic disk coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 IAGP MGI PMID:11929848 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:9240560 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Rxra retinoid X receptor alpha IAGP MGI PMID:19255444 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Rxrb retinoid X receptor beta IAGP MGI PMID:19255444 NCBI chr17:34,250,786...34,257,377
Ensembl chr17:34,250,786...34,257,373 		JBrowse link
optic nerve coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 IAGP MGI PMID:8951055 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Rara retinoic acid receptor, alpha IAGP MGI PMID:7607067 NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:7607067 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:7607067 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Rpl24 ribosomal protein L24 IAGP MGI PMID:9331275 PMID:10681427 NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798 		JBrowse link
G Rybp RING1 and YY1 binding protein IAGP MGI PMID:17470285 NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446 		JBrowse link
retina coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arb2a ARB2 cotranscriptional regulator A IAGP MGI PMID:29311329 NCBI chr13:77,856,799...78,314,359
Ensembl chr13:77,850,152...78,314,354 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:29311329 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Kdm2b lysine (K)-specific demethylase 2B IAGP MGI PMID:21220025 NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886 		JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 IAGP MGI PMID:19653321 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IAGP MGI PMID:12756228 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mapk9 mitogen-activated protein kinase 9 IAGP MGI PMID:12756228 NCBI chr11:49,737,558...49,777,248
Ensembl chr11:49,737,578...49,777,248 		JBrowse link
G Rara retinoic acid receptor, alpha IAGP MGI PMID:7607067 NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:7607067 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:7607067 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Rybp RING1 and YY1 binding protein IAGP MGI PMID:17470285 NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IAGP MGI PMID:21750680 NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
G Trp53 transformation related protein 53 IAGP MGI PMID:25119037 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
uveal coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 IAGP MGI PMID:20221250 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Rps7 ribosomal protein S7 IAGP MGI PMID:23382688 NCBI chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17275
    vision/eye phenotype 3284
      abnormal eye morphology 3127
        abnormal eye development 572
          coloboma 59
            optic disk coloboma 5
            optic nerve coloboma 6
            retina coloboma 12
            uveal coloboma + 16
paths to the root