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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:vision/eye phenotype
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Accession:MP:0005391 term browser browse the term
Definition:the observable morphological and physiological characteristics of the mammalian spheroid organ and optic nerve that serve to detect light that are manifested through development and lifespan
Synonyms:narrow_synonym: Abnormality of the eye
 xref: HP:0000478


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abnormal a-wave implicit time 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
abnormal b-wave amplitude 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:18246026 RGD:13782370 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:18246026 RGD:13782370
abnormal b-wave implicit time 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
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 cone electrophysiology 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:18246026 RGD:13782370 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:18246026 RGD:13782370
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 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 eye physiology 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
G Pax6Sey paired box gene 6, small eye mutation IAGP RGD PMID:7981749 RGD:1601213
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 intraocular pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir200c microRNA 200c treatment IMP RGD PMID:23272142 RGD:155882562 NCBI chr 4:157,523,679...157,523,747 JBrowse link
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 fiber morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha severity IMP compared to wild type RGD PMID:31253878 RGD:401976417 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin severity IMP compared to wild type RGD PMID:31253878 RGD:401976417
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 apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase IDA RGD PMID:14988264 RGD:1358731 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
abnormal retina blood vessel morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP RGD PMID:31253878 RGD:401976417 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP RGD PMID:31253878 RGD:401976417
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 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
abnormal vision 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
abnormal visual evoked potential term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP DNA:deletion:intron 7, exon 8: RGD PMID:27465362 RGD:38548926 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8: RGD PMID:27465362 RGD:38548926
absent b-wave 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:23425697 RGD:13782191 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:23425697 RGD:13782191
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...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP RGD PMID:12356818 PMID:18470322 RGD:629571, 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
cornea 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
cornea opacity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha severity IMP compared to wild type RGD PMID:31253878 RGD:401976417 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin severity IMP compared to wild type RGD PMID:31253878 RGD:401976417
decreased a-wave amplitude 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:18246026 RGD:13782370 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:18246026 RGD:13782370
decreased b-wave amplitude term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
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
decreased retina apoptosis 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
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
increased retina apoptosis 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
microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 IAGP 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
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 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 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
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  mammalian phenotype 5420
    vision/eye phenotype 100
      abnormal eye morphology + 88
      abnormal eye physiology + 35
paths to the root