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Details
Link-It Detail - Jax Mouse Phenotype - abnormal sphingomyelin level
Debug Stats
  • ### Total Build Time: 59 ms 15.593 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 369 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=11 ms Completed: 11 ms rowSize= 582 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 574 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=20 ms Completed: 20 ms rowSize= 1.581 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 10.837 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal sphingomyelin level MP:0009823
Definition (1)
deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis
Parents (1)
img abnormal phospholipid level MP:0004777
Children (1)
img sphingomyelinosis MP:0009589
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img homeostasis/metabolism phenotype MP:00053767img abnormal phospholipid level MP:0004777
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanSGMS2166929sphingomyelin synthase 2
img Jax MP, Pubmed Id: 19286635, MOUSE PHENOTYPE ID: MGI:1921692
img Jax MP, Pubmed Id: 20441793, MOUSE PHENOTYPE ID: MGI:95636
img Jax MP, Pubmed Id: 19648608, MOUSE PHENOTYPE ID: MGI:108074
img Jax MP, Pubmed Id: 19286635, MOUSE PHENOTYPE ID: MGI:4818468
HumanSPTLC29517serine palmitoyltransferase, long chain base subunit 2
img Jax MP, Pubmed Id: 19648608, MOUSE PHENOTYPE ID: MGI:108074
img Jax MP, Pubmed Id: 20441793, MOUSE PHENOTYPE ID: MGI:95636
img Jax MP, Pubmed Id: 19286635, MOUSE PHENOTYPE ID: MGI:1921692
img Jax MP, Pubmed Id: 19286635, MOUSE PHENOTYPE ID: MGI:4818468
HumanNPC14864Niemann-Pick disease, type C1
INFERRED
HumanGALC2581galactosylceramidase
img Jax MP, Pubmed Id: 20441793, MOUSE PHENOTYPE ID: MGI:95636
img Jax MP, Pubmed Id: 19286635, MOUSE PHENOTYPE ID: MGI:1921692
img Jax MP, Pubmed Id: 19648608, MOUSE PHENOTYPE ID: MGI:108074
img Jax MP, Pubmed Id: 19286635, MOUSE PHENOTYPE ID: MGI:4818468
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0009823abnormal sphingomyelin level0self