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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 valine level
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Accession:MP:0030723 term browser browse the term
Definition:anomaly in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair


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decreased circulating valine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a4 solute carrier family 38, member 4 IAGP MGI PMID:31570606 NCBI chr15:96,892,701...96,953,837
Ensembl chr15:96,892,701...96,953,837 		JBrowse link
increased circulating valine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide IAGP MGI PMID:36880392 NCBI chr 9:83,807,190...84,006,293
Ensembl chr 9:83,807,198...84,006,293 		JBrowse link
increased valine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll1 tubulin tyrosine ligase-like 1 IAGP MGI PMID:37238654 NCBI chr15:83,367,258...83,402,675
Ensembl chr15:83,367,970...83,395,094 		JBrowse link
G Ttll7 tubulin tyrosine ligase-like family, member 7 IAGP MGI PMID:37238654 NCBI chr 3:146,557,312...146,690,156
Ensembl chr 3:146,558,122...146,689,764 		JBrowse link
valinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 IAGP MGI PMID:21493778 NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287 		JBrowse link
Term paths to the root
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  mammalian phenotype 17088
    homeostasis/metabolism phenotype 7928
      abnormal homeostasis 7062
        abnormal amino acid level 630
          abnormal valine level 5
            abnormal circulating valine level + 2
            decreased valine level + 1
            increased valine level + 4
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