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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 eye anterior chamber morphology
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Accession:MP:0005205 term browser browse the term
Definition:any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens
Synonyms:exact_synonym: eye anterior chamber abnormalities


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abnormal eye anterior chamber morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcar3 breast cancer anti-estrogen resistance 3 IAGP MGI PMID:19365570 NCBI chr 3:122,213,406...122,323,840
Ensembl chr 3:122,087,785...122,323,840 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 IAGP MGI PMID:17179069 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Col8a1 collagen, type VIII, alpha 1 IAGP MGI PMID:16051690 NCBI chr16:57,444,619...57,575,100
Ensembl chr16:57,444,621...57,575,100 		JBrowse link
G Col8a2 collagen, type VIII, alpha 2 IAGP MGI PMID:16051690 PMID:19578028 NCBI chr 4:126,180,613...126,208,123
Ensembl chr 4:126,180,586...126,208,123 		JBrowse link
G Egfr epidermal growth factor receptor IAGP MGI PMID:9030684 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:16199865 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase IAGP MGI PMID:12874108 NCBI chr 8:125,589,772...125,616,796
Ensembl chr 8:125,589,772...125,616,796 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:27483349 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Loxl1 lysyl oxidase-like 1 IAGP MGI PMID:24425853 NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:19029039 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 IAGP MGI PMID:24652767 NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
G Otx1 orthodenticle homeobox 1 IAGP MGI PMID:9077465 NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:9166583 PMID:11481423 PMID:12714618 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		JBrowse link
G Rb1 RB transcriptional corepressor 1 IAGP MGI PMID:17363591 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 IAGP MGI PMID:17363591 NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP MGI PMID:9030684 NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Tfap2b transcription factor AP-2 beta IAGP MGI PMID:27483349 NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800 		JBrowse link
G Trp53 transformation related protein 53 IAGP MGI PMID:17363591 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
abnormal aqueous humor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 IAGP MGI PMID:23527308 NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 IAGP MGI PMID:21769484 NCBI chr16:46,208,028...46,318,898
Ensembl chr16:46,208,069...46,318,888 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
abnormal eye anterior chamber depth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4931406C07Rik RIKEN cDNA 4931406C07 gene IEA MGI NCBI chr 9:15,194,633...15,217,836
Ensembl chr 9:15,194,633...15,217,744 		JBrowse link
G Abhd15 abhydrolase domain containing 15 IEA MGI NCBI chr11:77,405,943...77,411,454
Ensembl chr11:77,405,947...77,429,433 		JBrowse link
G Adgrg7 adhesion G protein-coupled receptor G7 IEA MGI NCBI chr16:56,544,972...56,616,369
Ensembl chr16:56,544,972...56,616,218 		JBrowse link
G Ambra1 autophagy/beclin 1 regulator 1 IEA MGI NCBI chr 2:91,560,464...91,749,194
Ensembl chr 2:91,560,479...91,749,194 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 IEA MGI NCBI chr 5:102,355,043...103,053,743
Ensembl chr 5:102,629,257...103,045,803 		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 Cbarp calcium channel, voltage-dependent, beta subunit associated regulatory protein IEA MGI NCBI chr10:79,966,268...79,976,189
Ensembl chr10:79,966,285...79,976,669 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) IEA MGI NCBI chr15:78,210,000...78,235,201
Ensembl chr15:78,209,952...78,238,047 		JBrowse link
G Cstb cystatin B IEA MGI NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Ctsh cathepsin H IEA MGI NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142 		JBrowse link
G Dact2 dishevelled-binding antagonist of beta-catenin 2 IEA MGI NCBI chr17:14,415,492...14,424,595
Ensembl chr17:14,415,314...14,424,566 		JBrowse link
G Dhx40 DEAH-box helicase 40 IEA MGI NCBI chr11:86,659,675...86,698,695
Ensembl chr11:86,659,672...86,698,572 		JBrowse link
G Ecrg4 ECRG4 augurin precursor IEA MGI NCBI chr 1:43,769,762...43,781,724
Ensembl chr 1:43,769,762...43,781,738 		JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 IEA MGI NCBI chr 6:119,547,757...119,830,985
Ensembl chr 6:119,547,757...119,825,128 		JBrowse link
G Fzd8 frizzled class receptor 8 IEA MGI NCBI chr18:9,212,856...9,216,201
Ensembl chr18:9,212,163...9,218,136 		JBrowse link
G Gp6 glycoprotein 6 platelet IEA MGI NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743 		JBrowse link
G Gpr101 G protein-coupled receptor 101 IEA MGI NCBI chr  X:56,542,028...56,549,117
Ensembl chr  X:56,542,028...56,549,117 		JBrowse link
G Gpr108 G protein-coupled receptor 108 IEA MGI NCBI chr17:57,541,914...57,555,743
Ensembl chr17:57,541,635...57,555,446 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase IEA MGI NCBI chr 6:52,523,215...52,617,285
Ensembl chr 6:52,523,213...52,617,374 		JBrowse link
G Il18rap interleukin 18 receptor accessory protein IEA MGI NCBI chr 1:40,554,548...40,590,867
Ensembl chr 1:40,554,522...40,590,865 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 IEA MGI NCBI chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
G Myo1a myosin IA IEA MGI NCBI chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809 		JBrowse link
G Nlrp2 NLR family, pyrin domain containing 2 IEA MGI NCBI chr 7:5,301,546...5,354,034
Ensembl chr 7:5,301,546...5,354,034 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible IEA MGI NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEA MGI NCBI chr11:98,658,758...98,666,233
Ensembl chr11:98,658,758...98,666,159 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 IEA MGI NCBI chr 2:164,721,288...164,733,360
Ensembl chr 2:164,721,224...164,736,374 		JBrowse link
G Pde4dip phosphodiesterase 4D interacting protein (myomegalin) IEA MGI NCBI chr 3:97,597,144...97,796,023
Ensembl chr 3:97,597,140...97,796,023 		JBrowse link
G Phf8 PHD finger protein 8 IEA MGI NCBI chr  X:150,303,621...150,416,855
Ensembl chr  X:150,303,668...150,416,855 		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 Plekhg3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 IEA MGI NCBI chr12:76,580,330...76,627,265
Ensembl chr12:76,577,665...76,627,262 		JBrowse link
G Podn podocan IEA MGI NCBI chr 4:107,871,990...107,889,544
Ensembl chr 4:107,871,988...107,889,534 		JBrowse link
G Prdm14 PR domain containing 14 IEA MGI NCBI chr 1:13,183,649...13,197,467
Ensembl chr 1:13,183,681...13,197,387 		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 Rasal3 RAS protein activator like 3 IEA MGI NCBI chr17:32,609,633...32,622,586
Ensembl chr17:32,609,633...32,622,557 		JBrowse link
G Rd3 retinal degeneration 3 IEA MGI NCBI chr 1:191,688,574...191,725,497
Ensembl chr 1:191,709,331...191,720,244 		JBrowse link
G Rnft2 ring finger protein, transmembrane 2 IEA MGI NCBI chr 5:118,328,799...118,388,518
Ensembl chr 5:118,328,801...118,383,181 		JBrowse link
G Rpl7l1 ribosomal protein L7-like 1 IEA MGI NCBI chr17:47,084,833...47,093,582
Ensembl chr17:47,084,833...47,093,598 		JBrowse link
G Rps6kc1 ribosomal protein S6 kinase polypeptide 1 IEA MGI NCBI chr 1:190,505,076...190,645,207
Ensembl chr 1:190,432,399...190,643,967 		JBrowse link
G Rspo1 R-spondin 1 IEA MGI NCBI chr 4:124,880,197...124,902,895
Ensembl chr 4:124,880,223...124,902,892 		JBrowse link
G Rundc3b RUN domain containing 3B IEA MGI NCBI chr 5:8,540,336...8,673,079
Ensembl chr 5:8,540,334...8,672,952 		JBrowse link
G Sbk1 SH3-binding kinase 1 IEA MGI NCBI chr 7:125,847,524...125,894,188
Ensembl chr 7:125,848,034...125,894,188 		JBrowse link
G Slc37a1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 IEA MGI NCBI chr17:31,495,722...31,569,683
Ensembl chr17:31,505,766...31,569,713 		JBrowse link
G Syngr3 synaptogyrin 3 IEA MGI NCBI chr17:24,904,066...24,908,923
Ensembl chr17:24,904,066...24,908,929 		JBrowse link
G Tead1 TEA domain family member 1 IEA MGI NCBI chr 7:112,278,563...112,505,991
Ensembl chr 7:112,278,525...112,506,014 		JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 IEA MGI NCBI chr19:18,707,566...18,869,885
Ensembl chr19:18,727,347...18,869,875 		JBrowse link
G Ube3b ubiquitin protein ligase E3B IEA MGI NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial IEA MGI NCBI chr17:35,966,526...35,978,531
Ensembl chr17:35,966,526...35,978,484 		JBrowse link
G Vps9d1 VPS9 domain containing 1 IEA MGI NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Wbp1l WW domain binding protein 1 like IEA MGI NCBI chr19:46,587,545...46,645,828
Ensembl chr19:46,587,523...46,645,828 		JBrowse link
G Zfp930 zinc finger protein 930 IEA MGI NCBI chr 8:69,661,701...69,683,188
Ensembl chr 8:69,661,690...69,683,188 		JBrowse link
absent eye anterior chamber term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 IAGP MGI PMID:17715063 PMID:22522965 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		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 Pax6 paired box 6 IAGP MGI PMID:20538882 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:10499585 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		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 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:7607067 PMID:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Tgfa transforming growth factor alpha IAGP MGI PMID:8477445 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 IAGP MGI PMID:11784073 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		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
decreased eye anterior chamber depth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP MGI PMID:34424262 NCBI chr17:33,742,620...33,772,756
Ensembl chr17:33,743,178...33,772,756 		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 H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19509472 PMID:20568247 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Limk2 LIM domain kinase 2 IAGP MGI PMID:23071748 NCBI chr11:3,293,297...3,359,238
Ensembl chr11:3,294,256...3,359,189 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:10660670 PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 IAGP MGI PMID:19456252 NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824 		JBrowse link
enlarged eye anterior chamber term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen, type VIII, alpha 2 IAGP MGI PMID:19578028 NCBI chr 4:126,180,613...126,208,123
Ensembl chr 4:126,180,586...126,208,123 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IEA MGI NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prss56 serine protease 56 IAGP MGI PMID:21532570 NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:19669234 PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
hypopyon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
increased eye anterior chamber depth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 IAGP MGI PMID:25202984 NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373 		JBrowse link
G Angpt2 angiopoietin 2 IAGP MGI PMID:25202984 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Bcar3 breast cancer anti-estrogen resistance 3 IAGP MGI PMID:19365570 NCBI chr 3:122,213,406...122,323,840
Ensembl chr 3:122,087,785...122,323,840 		JBrowse link
G Col8a1 collagen, type VIII, alpha 1 IAGP MGI PMID:16051690 NCBI chr16:57,444,619...57,575,100
Ensembl chr16:57,444,621...57,575,100 		JBrowse link
G Col8a2 collagen, type VIII, alpha 2 IAGP MGI PMID:16051690 NCBI chr 4:126,180,613...126,208,123
Ensembl chr 4:126,180,586...126,208,123 		JBrowse link
G Egr1 early growth response 1 IAGP MGI PMID:17197510 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Fgf9 fibroblast growth factor 9 IAGP MGI PMID:21858205 NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:25202984 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:19669234 PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
G Tdrd7 tudor domain containing 7 IAGP MGI PMID:21436445 NCBI chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761 		JBrowse link
G Tek TEK receptor tyrosine kinase IAGP MGI PMID:25202984 NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213 		JBrowse link
G Wdr45 WD repeat domain 45 IAGP MGI PMID:34043061 NCBI chr  X:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
G Zfp469 zinc finger protein 469 IAGP MGI PMID:34368841 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17088
    vision/eye phenotype 3189
      abnormal eye morphology 3030
        abnormal anterior eye segment morphology 1184
          abnormal eye anterior chamber morphology 96
            abnormal aqueous humor 3
            abnormal eye anterior chamber depth + 70
            absent eye anterior chamber 11
            enlarged eye anterior chamber 4
            hypopyon 1
paths to the root