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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 isoleucine level
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Accession:MP:0030711 term browser browse the term
Definition:anomaly in the amount of isoleucine, a 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration; it is 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



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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
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  mammalian phenotype 5368
    homeostasis/metabolism phenotype 1392
      abnormal homeostasis 1298
        abnormal amino acid level 72
          abnormal isoleucine level 2
            abnormal circulating isoleucine level + 2
            decreased isoleucine level + 2
            increased isoleucine level + 0
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