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Details
Link-It Detail - Jax Mouse Phenotype - abnormal retinal rod cell outer segment morphology
Debug Stats
  • ### Total Build Time: 83 ms 24.019 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 428 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 333 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 181 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=79 ms Completed: 79 ms rowSize= 12.360 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.188 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal retinal rod cell outer segment morphology MP:0008456
Definition (1)
any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin
Synonyms (1)
"abnormal ROS morphology" EXACT
Parents (2)
img abnormal retinal rod cell morphology MP:0001005
img abnormal photoreceptor outer segment morphology MP:0003729
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036318img abnormal retinal rod cell morphology MP:0001005
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036319img abnormal retinal rod cell morphology MP:0001005
img mammalian phenotype MP:0000001img vision/eye phenotype MP:000539112img abnormal retinal rod cell morphology MP:0001005
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036318img abnormal photoreceptor outer segment morphology MP:0003729
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036319img abnormal photoreceptor outer segment morphology MP:0003729
img mammalian phenotype MP:0000001img vision/eye phenotype MP:000539112img abnormal photoreceptor outer segment morphology MP:0003729
Genes (20)

Species:
human : 20
SpeciesGeneGeneIdGene NameEvidence
HumanRDH12145226retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Click here to display 28 evidence detail records.
HumanPANK280025pantothenate kinase 2
Click here to display 28 evidence detail records.
HumanSEMA4A64218sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
Click here to display 28 evidence detail records.
HumanCABP457010calcium binding protein 4
Click here to display 28 evidence detail records.
HumanLRAT9227lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Click here to display 28 evidence detail records.
HumanPROM18842prominin 1
Click here to display 28 evidence detail records.
HumanELOVL46785ELOVL fatty acid elongase 4
Click here to display 28 evidence detail records.
HumanSAG6295S-antigen; retina and pineal gland (arrestin)
Click here to display 28 evidence detail records.
HumanRPE656121retinal pigment epithelium-specific protein 65kDa
Click here to display 28 evidence detail records.
HumanRPGR6103retinitis pigmentosa GTPase regulator
Click here to display 28 evidence detail records.
HumanROM16094retinal outer segment membrane protein 1
Click here to display 28 evidence detail records.
HumanGRK16011G protein-coupled receptor kinase 1
Click here to display 28 evidence detail records.
HumanRHO6010rhodopsin
Click here to display 28 evidence detail records.
HumanPRPH25961peripherin 2 (retinal degeneration, slow)
Click here to display 28 evidence detail records.
HumanPDE6B5158phosphodiesterase 6B, cGMP-specific, rod, beta
Click here to display 28 evidence detail records.
HumanNTRK24915neurotrophic tyrosine kinase, receptor, type 2
Click here to display 28 evidence detail records.
HumanGUCY2F2986guanylate cyclase 2F, retinal
Click here to display 28 evidence detail records.
HumanGNAT12779guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
Click here to display 28 evidence detail records.
HumanCLN82055ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Click here to display 28 evidence detail records.
HumanCNGB11258cyclic nucleotide gated channel beta 1
Click here to display 28 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0008456abnormal retinal rod cell outer segment morphology0self