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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 circulating isoleucine level
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Accession:MP:0030714 term browser browse the term
Definition:anomaly in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels
Synonyms:narrow_synonym: abnormal plasma isoleucine level;   abnormal serum isoleucine level


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decreased circulating isoleucine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633 		JBrowse link
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  mammalian phenotype 5402
    homeostasis/metabolism phenotype 1418
      abnormal homeostasis 1319
        abnormal amino acid level 82
          abnormal circulating amino acid level 68
            abnormal circulating isoleucine level 2
              decreased circulating isoleucine level 2
              increased circulating isoleucine level 0
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