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
Accession: MP:0002092
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 tissue abnormalities; visual system abnormalities; visual system defects
narrow_synonym: eye dysplasia; eye malformation; eye: dysmorphology; ocular dysplasia; ophthalmic malformation
alt_id: MP:0001285; MP:0001294; MP:0001295; MP:0004104
xref: Fyler:4863; GO:0001654; HP:0012372; MGI:2173536
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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
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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
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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
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Cryba1Hiser
crystallin, beta A1; HiSER mutant
IAGP
RGD
PMID:26303524
RGD:38676460
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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
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
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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
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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
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Frem2fpl
Fras1 related extracellular matrix protein 2;fpl mutant
IAGP
RGD
PMID:21756877
RGD:13464328
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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
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Gja8m1Cub
gap junction protein, alpha 8; mutant 1 Cub
IAGP
RGD
PMID:18470322
RGD:2293186
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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
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
severity
IMP
compared to wild type
RGD
PMID:31253878
RGD:401976417
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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
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Cryba1Hiser
crystallin, beta A1; HiSER mutant
IAGP
RGD
PMID:26303524
RGD:38676460
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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
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Crb1m1
crumbs 1, cell polarity complex component, mutant 1
IAGP
RGD
PMID:25878282
RGD:13451131
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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
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:31253878
RGD:401976417
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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
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Lrp5em1Vari
LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari
IMP
RGD
PMID:32833527
RGD:40902996
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Lrp5em2Vari
LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari
IMP
RGD
PMID:32833527
RGD:40902996
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Lrp5em3Vari
LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari
IMP
RGD
PMID:32833527
RGD:40902996
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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
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Lrp5em1Vari
LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari
IMP
RGD
PMID:32833527
RGD:40902996
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Lrp5em2Vari
LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari
IMP
RGD
PMID:32833527
RGD:40902996
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Lrp5em3Vari
LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari
IMP
RGD
PMID:32833527
RGD:40902996
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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
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Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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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
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Cryba1Hiser
crystallin, beta A1; HiSER mutant
IAGP
RGD
PMID:26303524
RGD:38676460
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:15721615
RGD:126925760
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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
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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
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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
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:15721615
RGD:126925760
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
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:15721615
RGD:126925760
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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
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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
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:15721615
RGD:126925760
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
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Crb1m1
crumbs 1, cell polarity complex component, mutant 1
IAGP
RGD
PMID:25878282
RGD:13451131
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
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:17931883
RGD:2303652
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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
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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
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EdaraddswhKyo
EDAR-associated death domain;swh Kyo mutant
IAGP
DNA:missense mutation:exon:p.Pro153Ser(rat)
RGD
PMID:22013926
RGD:14398762
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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
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Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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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
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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
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Gja8m1Cub
gap junction protein, alpha 8; mutant 1 Cub
IAGP
RGD
PMID:18470322
RGD:2293186
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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
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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
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
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Brca2
BRCA2, DNA repair associated
IMP
RGD
PMID:16964288
RGD:1599505
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brca2m1Uwm
BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison
IMP
RGD
PMID:16964288
RGD:1599505
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
G
Crb1m1
crumbs 1, cell polarity complex component, mutant 1
IAGP
RGD
PMID:25878282
RGD:13451131
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
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
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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
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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
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Wfs1em1Ptsn
wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
onset
IMP
RGD
PMID:28860598
RGD:149735331
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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
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Brca2
BRCA2, DNA repair associated
IMP
RGD
PMID:16964288
RGD:1599505
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Brca2m1Uwm
BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison
IMP
RGD
PMID:16964288
RGD:1599505
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
G
Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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
G
Wfs1em1Ptsn
wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
onset
IMP
RGD
PMID:28860598
RGD:149735331
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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
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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
G
Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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
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
G
Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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
G
Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:15721615
RGD:126925760
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
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
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
G
Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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
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
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