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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 morphology
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Accession:MP:0002092 term browser browse the term
Definition:any structural anomaly of the spheroid organ and optic nerve that serves to detect light
Synonyms:exact_synonym: abnormal eyes morphology;   abnormal ocular orb morphology;   eye abnormalities;   eye dysplasia;   eye malformation;   eye tissue abnormalities;   eye: dysmorphology;   ocular dysplasia;   ophthalmic malformation;   visual system abnormalities;   visual system defects
 alt_id: MP:0001285;   MP:0001294;   MP:0001295;   MP:0004104
 xref: Fyler:4863;   GO:0001654;   MGI:2173536


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abnormal eye morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 QTM RGD PMID:9247338 RGD:731242 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
abnormal choroid vasculature morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
abnormal ciliary body morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IAGP RGD PMID:26303524 RGD:38676460 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Hiser crystallin, beta A1; HiSER mutant IAGP RGD PMID:26303524 RGD:38676460
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
abnormal exorbital lacrimal gland morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2ry2 purinergic receptor P2Y2 IMP RGD PMID:19155635 RGD:2316657 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		JBrowse link
abnormal eyelid fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP RGD PMID:21756877 RGD:13464328 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 RGD:13464328
abnormal lens development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 IAGP DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186
abnormal lens morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IAGP RGD PMID:26303524 RGD:38676460 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Hiser crystallin, beta A1; HiSER mutant IAGP RGD PMID:26303524 RGD:38676460
abnormal Muller cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component, mutant 1 IAGP RGD PMID:25878282 RGD:13451131
abnormal retina blood vessel morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 IMP RGD PMID:32833527 RGD:40902996 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrp5em1Vari LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em2Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari IMP RGD PMID:32833527 RGD:40902996
abnormal retina blood vessel pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 IMP RGD PMID:32833527 RGD:40902996 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrp5em1Vari LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em2Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari IMP RGD PMID:32833527 RGD:40902996
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
abnormal retina ganglion layer morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IAGP
IMP		 RGD PMID:26303524 PMID:15721615 RGD:38676460, RGD:126925760 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Hiser crystallin, beta A1; HiSER mutant IAGP RGD PMID:26303524 RGD:38676460
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 RGD:126925760
abnormal retina horizontal cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:22634626 RGD:13782386 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:22634626 RGD:13782386
abnormal retina inner nuclear layer thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:15721615 RGD:126925760 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 RGD:126925760
abnormal retina inner plexiform layer morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:15721615 RGD:126925760 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 RGD:126925760
abnormal retina 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 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
abnormal retina outer nuclear layer thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:15721615 RGD:126925760 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 RGD:126925760
abnormal retina pigment epithelium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase treatment IAGP RGD PMID:11592982 RGD:69668 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mertkrdy MER proto-oncogene, tyrosine kinase; retinal dystrophy mutant treatment IAGP RGD PMID:11592982 RGD:69668
abnormal retina pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component, mutant 1 IAGP RGD PMID:25878282 RGD:13451131
abnormal retina vasculature morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:17931883 RGD:2303652 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:17931883 RGD:2303652
G Kdr kinase insert domain receptor IDA inhibition significantly reduces retinal neovascularization RGD PMID:15951738 RGD:1581593 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
absent Meibomian glands 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 chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762
cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B IMP in KO rat RGD PMID:30893315 RGD:126908018 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc IMP RGD PMID:30893315 RGD:126908018
G Gja3 gap junction protein, alpha 3 NAS RGD PMID:16271086 RGD:1599824 NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP RGD PMID:12356818 RGD:629571 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
corneal deposits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
decreased eye anterior chamber depth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:16964288 RGD:1599505 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:16964288 RGD:1599505
disorganized retina outer nuclear layer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component, mutant 1 IAGP RGD PMID:25878282 RGD:13451131
microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 IAGP DNA:frameshift mutation:cds: RGD PMID:21203536 RGD:8552339 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
ocular albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein IAGP RGD PMID:16245028 RGD:1579834 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
optic nerve atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein onset IMP RGD PMID:28860598 RGD:149735331 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset IMP RGD PMID:28860598 RGD:149735331
photoreceptor outer segment degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:23516626 RGD:11535084 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
posterior iris synechia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:16964288 RGD:1599505 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:16964288 RGD:1599505
retina degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
retina gliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein onset IMP RGD PMID:28860598 RGD:149735331 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset IMP RGD PMID:28860598 RGD:149735331
retina outer nuclear layer degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA induces IAGP DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm		 RGD PMID:21479269 PMID:21479269 RGD:150429616, RGD:150429616 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myo15aci2 myosin XVA; ci2 mutant induces IAGP compared to LEW/Ztm RGD PMID:21479269 RGD:150429616
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
retina photoreceptor degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase treatment IAGP RGD PMID:11592982 RGD:69668 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mertkrdy MER proto-oncogene, tyrosine kinase; retinal dystrophy mutant treatment IAGP RGD PMID:11592982 RGD:69668
G Myo15a myosin XVA induces IAGP DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm		 RGD PMID:21479269 PMID:21479269 RGD:150429616, RGD:150429616 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myo15aci2 myosin XVA; ci2 mutant induces IAGP compared to LEW/Ztm RGD PMID:21479269 RGD:150429616
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
small lens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:15721615 RGD:126925760 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 RGD:126925760
thin retina outer nuclear layer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase IAGP RGD PMID:11592982 RGD:69668 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mertkrdy MER proto-oncogene, tyrosine kinase; retinal dystrophy mutant IAGP RGD PMID:11592982 RGD:69668
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
thin retina outer plexiform layer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:22634626 RGD:13782386 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:22634626 RGD:13782386
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5374
    vision/eye phenotype 98
      abnormal eye morphology 86
        abnormal anterior eye segment morphology + 29
        abnormal cornea limbus morphology 0
        abnormal eye development + 7
        abnormal eye distance/ position + 0
        abnormal eye muscle morphology + 0
        abnormal eye pigmentation + 12
        abnormal eye size + 4
        abnormal eye vasculature morphology + 15
        abnormal eyelid morphology + 6
        abnormal ocular surface morphology + 2
        abnormal orbit morphology + 0
        abnormal posterior eye segment morphology + 45
        abnormal sclera morphology + 0
        abnormal uvea morphology + 19
        anophthalmia 0
        calcified intraocular region + 0
        decreased eye tumor incidence 0
        eye lesions 0
        eye opacity 1
        eye swellings 0
        increased eye tumor incidence + 0
        ocular rupture 0
        strabismus + 0
paths to the root