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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 anterior eye segment morphology
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Accession:MP:0005193 term browser browse the term
Definition:any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive)
Synonyms:exact_synonym: abnormal anterior segment morphology
 narrow_synonym: anterior eye segment dysplasia
 alt_id: MP:0000095


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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 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
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 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
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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5417
    vision/eye phenotype 100
      abnormal eye morphology 88
        abnormal anterior eye segment morphology 32
          abnormal anterior uvea morphology + 9
          abnormal cilary zonule morphology 0
          abnormal conjunctiva morphology + 0
          abnormal conjunctival sac morphology 0
          abnormal cornea morphology + 6
          abnormal eye anterior chamber morphology + 3
          abnormal eye posterior chamber morphology + 0
          abnormal lens morphology + 23
          abnormal tear film morphology 0
          anterior staphyloma 0
paths to the root