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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 amino acid level
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Accession:MP:0005332 term browser browse the term
Definition:any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group


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abnormal amino acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor IMP RGD PMID:22842522 RGD:7207891 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
decreased circulating creatinine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator IMP RGD PMID:29959280 RGD:38599145 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G Aireem1Ang autoimmune regulator; ZFN induced mutant1, Ang IMP RGD PMID:29959280 RGD:38599145
G Cd40 CD40 molecule IMP RGD PMID:27692815 RGD:14398462 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40em1Uthal CD40 molecule; ZFN induced mutant 1, Uthal IMP RGD PMID:27692815 RGD:14398462
G Ets1 ETS proto-oncogene 1, transcription factor induces IAGP compared to littermate RGD PMID:31932071 RGD:150429812 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010 		JBrowse link
G Ets1em1Mcwi v-ets erythroblastosis virus E26 oncogene homolog 1 (avian); zinc finger nuclease induced mutant 1, Medical College of Wisconsin induces IAGP compared to littermate RGD PMID:31932071 RGD:150429812
decreased circulating isoleucine level term browser
Symbol Object Name Qualifiers 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
decreased circulating leucine level term browser
Symbol Object Name Qualifiers 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
decreased circulating valine level term browser
Symbol Object Name Qualifiers 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
decreased urine creatinine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 IMP as compared to the wild-type RGD PMID:24006081 RGD:8662415 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Ren renin IMP compared to wild type RGD PMID:21242461 RGD:7771614 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Renem1Mcwi renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:21242461 RGD:7771614
increased circulating creatinine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP compared to PKD RGD PMID:7933831 RGD:1300446 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IAGP compared to PKD RGD PMID:7933831 RGD:1300446
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Fh fumarate hydratase IMP RGD PMID:27556703 RGD:13792708 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Fhem1 fumarate hydratase; TALEN induced mutant 1 IMP RGD PMID:27556703 RGD:13792708
G Lepr leptin receptor IMP RGD PMID:27465994 RGD:12911217 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:27465994 RGD:12911217
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:24244710 RGD:12880447 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24244710 RGD:12880447
G Ren renin IMP compared to wild type RGD PMID:21242461 RGD:7771614 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Renem1Mcwi renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:21242461 RGD:7771614
G Sod3 superoxide dismutase 3 onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
G Tmem67 transmembrane protein 67 IAGP RGD PMID:11095650 RGD:1300514 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:11095650 RGD:1300514
increased circulating tyrosine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fah fumarylacetoacetate hydrolase IMP after NTBC withdrawal in the drinking water RGD PMID:27510266 RGD:14398823 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Fahem15Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli IMP after NTBC withdrawal in the drinking water RGD PMID:27510266 RGD:14398823
increased creatine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d1 TBC1 domain family member 1 induces IMP RGD PMID:28808062 RGD:150521563 NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499 		JBrowse link
G Tbc1d1Tn(sb)1Fkh TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh induces IMP RGD PMID:28808062 RGD:150521563
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5374
    homeostasis/metabolism phenotype 1396
      abnormal homeostasis 1299
        abnormal amino acid level 73
          abnormal arginine level + 2
          abnormal aspartic acid level + 0
          abnormal beta-alanine level + 0
          abnormal circulating amino acid level + 61
          abnormal creatine level + 6
          abnormal cystathionine level + 0
          abnormal cysteine level + 0
          abnormal gamma-aminobutyric acid level + 0
          abnormal glutamic acid level + 0
          abnormal glutamine level + 1
          abnormal glutathione level + 3
          abnormal glycine level + 0
          abnormal hydroxyproline level + 0
          abnormal isoleucine level + 2
          abnormal leucine level + 2
          abnormal lysine level + 0
          abnormal methionine level + 0
          abnormal ornithine level + 0
          abnormal phenylalanine level + 0
          abnormal proline level + 0
          abnormal serine level + 0
          abnormal taurine level + 0
          abnormal threonine level + 0
          abnormal urine amino acid level + 8
          abnormal valine level + 2
paths to the root