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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 retina photoreceptor morphology
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Accession:MP:0001004 term browser browse the term
Definition:any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina
Synonyms:exact_synonym: abnormal photoreceptors;   abnormal retinal photoreceptor morphology
 xref: CL:0000210


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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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5417
    nervous system phenotype 376
      abnormal nervous system morphology 214
        abnormal neuron morphology 70
          abnormal sensory neuron morphology 19
            abnormal retina photoreceptor morphology 10
              abnormal photoreceptor connecting cilium morphology 0
              abnormal photoreceptor inner segment morphology + 0
              abnormal photoreceptor outer segment morphology + 3
              abnormal retina cone cell morphology + 0
              abnormal retina rod cell morphology + 1
              decreased retina photoreceptor cell number + 1
              increased retina photoreceptor cell number + 0
              retina photoreceptor degeneration + 8
Path 2
Term Annotations click to browse term
  mammalian phenotype 5417
    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 photoreceptor layer morphology 10
                    abnormal retina photoreceptor morphology 10
                      abnormal photoreceptor connecting cilium morphology 0
                      abnormal photoreceptor inner segment morphology + 0
                      abnormal photoreceptor outer segment morphology + 3
                      abnormal retina cone cell morphology + 0
                      abnormal retina rod cell morphology + 1
                      decreased retina photoreceptor cell number + 1
                      increased retina photoreceptor cell number + 0
                      retina photoreceptor degeneration + 8
paths to the root