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: increased circulating amino acid level
Accession: MP:0014530
browse the term
Definition: increase in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group
Synonyms: exact_synonym: elevated circulating amino acid level
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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
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Anks6PKD
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
IAGP
compared to PKD
RGD
PMID:7933831
RGD:1300446
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Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Col4a5em1Matsu
collagen type IV alpha 5 chain; CRISPR/Cas9 induced mutant 1, Matsu
IMP
RGD
PMID:34675305
RGD:329845598
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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
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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
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Fhem1
fumarate hydratase; TALEN induced mutant 1
IMP
RGD
PMID:27556703
RGD:13792708
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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
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
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Lrrk2
leucine-rich repeat kinase 2
IMP
RGD
PMID:24244710
RGD:12880447
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24244710
RGD:12880447
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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
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Renem1Mcwi
renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
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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
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Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
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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
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:11095650
RGD:1300514
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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
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Fahem15Dlli-/-
fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli
IMP
after NTBC withdrawal in the drinking water
RGD
PMID:27510266
RGD:14398823
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