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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:dysmyelination
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Accession:MP:0013438 term browser browse the term
Definition:reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
Comment:Dysmyelination refers to malformed and defective myelin sheath as opposed to the destruction of previously normal myelin that is seen in demyelination. Dysmyelination disorders often arise from hereditary mutations that affect the synthesis and formation of myelin.
Synonyms:exact_synonym: hypomyelination;   reduced myelination


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dysmyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase IMP RGD PMID:27026062 RGD:13464274 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo IMP RGD PMID:27026062 RGD:13464274
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Dop1a DOP1 leucine zipper like protein A IAGP RGD PMID:24863653 RGD:40818080 NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353 		JBrowse link
G Lpin1 lipin 1 IMP RGD PMID:21715287 RGD:38599010 NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097 		JBrowse link
G Lpin1m1Hubr lipin 1; ENU induced mutant 1, Hubr IMP compared to Wild type RGD PMID:21715287 RGD:38599010
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  mammalian phenotype 5418
    nervous system phenotype 378
      abnormal nervous system physiology 218
        abnormal myelination 33
          dysmyelination 12
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