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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:retina outer nuclear layer degeneration
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Accession:MP:0008518 term browser browse the term
Definition:a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones
Synonyms:exact_synonym: retina ONL degeneration;   retinal ONL degeneration;   retinal outer nuclear layer degeneration



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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

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Term Annotations click to browse term
  mammalian phenotype 5420
    vision/eye phenotype 100
      abnormal eye morphology 88
        abnormal posterior eye segment morphology 47
          abnormal ocular fundus morphology 46
            abnormal retina morphology 46
              abnormal retina layer morphology 29
                abnormal retina neuronal layer morphology 24
                  abnormal retina outer nuclear layer morphology 17
                    retina outer nuclear layer degeneration 7
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