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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 sphingolipid level
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Accession:MP:0012230 term browser browse the term
Definition:anomaly in the amount of any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)


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abnormal sphingolipid level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP in eyes;compared to wild type RGD PMID:31253878 RGD:401976417 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP in eyes;compared to wild type RGD PMID:31253878 RGD:401976417
abnormal glycosphingolipid level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to wild type RGD PMID:29563343 PMID:34541380 PMID:34320241 RGD:150429980, RGD:401976419, RGD:401976418 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:29563343 PMID:34320241 PMID:34541380 RGD:150429980, RGD:401976418, RGD:401976419
increased ganglioside level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a6 solute carrier family 9 member A6 IMP RGD PMID:34928329 RGD:151664747 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slc9a6 em1Moro solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro IMP RGD PMID:34928329 RGD:151664747
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5420
    homeostasis/metabolism phenotype 1426
      abnormal homeostasis 1327
        abnormal lipid homeostasis 364
          abnormal lipid level 359
            abnormal sphingolipid level 6
              abnormal ceramide level + 3
              abnormal glycosphingolipid level + 6
              abnormal sphingomyelin level + 0
              abnormal sphingosine level + 0
paths to the root