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Details
Link-It Detail - Jax Mouse Phenotype - abnormal melanosome morphology
Debug Stats
  • ### Total Build Time: 49 ms 22.446 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 279 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 194 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
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 585 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.002 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.574 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 16.146 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal melanosome morphology MP:0005075
Definition (1)
any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored
Synonyms (1)
"abnormal melanin granule morphology" NARROW
Parents (1)
img abnormal melanocyte morphology MP:0002877
Children (4)
img abnormal hair shaft melanin granule morphology MP:0008731
img abnormal hair follicle melanin granule morphology MP:0005072
img abnormal choroid melanin granule morphology MP:0010193
img abnormal retinal melanin granule morphology MP:0010192
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img pigmentation phenotype MP:00011864img abnormal melanocyte morphology MP:0002877
Genes (35)

Species:
human : 35
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Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
Click here to display 34 evidence detail records.
HumanZDHHC21340481zinc finger, DHHC-type containing 21
INFERRED
HumanSLC24A5283652solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
Click here to display 34 evidence detail records.
HumanLIPH200879lipase, member H
INFERRED
HumanHPS489781Hermansky-Pudlak syndrome 4
Click here to display 34 evidence detail records.
HumanHPS384343Hermansky-Pudlak syndrome 3
Click here to display 34 evidence detail records.
HumanELOVL383401ELOVL fatty acid elongase 3
INFERRED
HumanADAMTS2080070ADAM metallopeptidase with thrombospondin type 1 motif, 20
INFERRED
HumanHPS679803Hermansky-Pudlak syndrome 6
Click here to display 34 evidence detail records.
HumanTRAPPC6A79090trafficking protein particle complex 6A
Click here to display 34 evidence detail records.
HumanMLPH79083melanophilin
INFERRED
HumanKXD179036KxDL motif containing 1
INFERRED
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
Click here to display 34 evidence detail records.
HumanBLOC1S563915biogenesis of lysosomal organelles complex-1, subunit 5, muted
Click here to display 34 evidence detail records.
HumanBLOC1S455330biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Click here to display 34 evidence detail records.
HumanLEF151176lymphoid enhancer-binding factor 1
INFERRED
HumanBLOC1S626258biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Click here to display 34 evidence detail records.
HumanRAB3823682RAB38, member RAS oncogene family
Click here to display 34 evidence detail records.
HumanBCL2L1110018BCL2-like 11 (apoptosis facilitator)
INFERRED
HumanFIG49896FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
Click here to display 34 evidence detail records.
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
Click here to display 34 evidence detail records.
HumanTYR7299tyrosinase
Click here to display 34 evidence detail records.
HumanSOX106663SRY (sex determining region Y)-box 10
INFERRED
HumanPMEL6490premelanosome protein
Click here to display 34 evidence detail records.
HumanGPR1434935G protein-coupled receptor 143
Click here to display 34 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005075abnormal melanosome morphology0self