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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 posterior eye segment morphology
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Accession:MP:0005195 term browser browse the term
Definition:any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive)
Synonyms:exact_synonym: posterior eye segment dysplasia


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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
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
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
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
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 5407
    vision/eye phenotype 98
      abnormal eye morphology 86
        abnormal posterior eye segment morphology 45
          abnormal ocular fundus morphology + 44
          abnormal optic nerve morphology + 4
          abnormal vitreous body morphology + 0
          retrolental blood 0
paths to the root