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Details
Link-It Detail - Jax Mouse Phenotype - accumulation of giant lysosomes in kidney/renal tubule cells
Debug Stats
  • ### Total Build Time: 14 ms 74.785 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 448 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 217 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 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=2 ms Completed: 2 ms rowSize= 1.027 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.918 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 68.841 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.197 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
accumulation of giant lysosomes in kidney/renal tubule cells MP:0005060
Definition (1)
buildup of contents in lysosomes in cells of the kidney tubules
Parents (2)
img abnormal renal tubule morphology MP:0002703
img abnormal lysosome morphology MP:0005058
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img renal/urinary system phenotype MP:00053677img abnormal renal tubule morphology MP:0002703
img mammalian phenotype MP:0000001img cellular phenotype MP:00053845img abnormal lysosome morphology MP:0005058
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
HumanLGMN5641legumain
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
HumanNEU14758sialidase 1 (lysosomal sialidase)
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
HumanRAB8A4218RAB8A, member RAS oncogene family
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
HumanGUSB2990glucuronidase, beta
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
HumanCLCN71186chloride channel, voltage-sensitive 7
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
HumanLYST1130lysosomal trafficking regulator
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
HumanACP253acid phosphatase 2, lysosomal
img Jax MP, Pubmed Id: 408, MOUSE PHENOTYPE ID: MGI:107448
img Jax MP, Pubmed Id: 12775715, MOUSE PHENOTYPE ID: MGI:1330838
img Jax MP, Pubmed Id: 12403825, MOUSE PHENOTYPE ID: MGI:95872
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
img Jax MP, Pubmed Id: 12023988, MOUSE PHENOTYPE ID: MGI:97305
img Jax MP, Pubmed Id: 9228031, MOUSE PHENOTYPE ID: MGI:87882
img Jax MP, Pubmed Id: 10381507, MOUSE PHENOTYPE ID: MGI:1333879
img Jax MP, Pubmed Id: 19661288, MOUSE PHENOTYPE ID: MGI:1347048
img Jax MP, Pubmed Id: 17597763, MOUSE PHENOTYPE ID: MGI:96960
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005060accumulation of giant lysosomes in kidney/renal tubule cells0self