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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 enzyme/coenzyme level
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Accession:MP:0005319 term browser browse the term
Definition:altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances
Synonyms:narrow_synonym: Abnormality of circulating enzyme level
 xref: HP:0011021


show annotations for term's descendants           Sort by:
abnormal enzyme/coenzyme level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 IMP Por RGD PMID:27856527 RGD:127285625 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Nr1i2em1Sage nuclear receptor subfamily 1, group I, member 2; ZFN induced mutant1, Sage IMP Por RGD PMID:27856527 RGD:127285625
abnormal circulating aspartate transaminase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:23799078 RGD:13462048 NCBI chr 7:122,826,696...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:23799078 RGD:13462048
decreased circulating alanine transaminase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
G Dpp4 dipeptidylpeptidase 4 IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336 NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901 		JBrowse link
G Dpp4DPPIV dipeptidylpeptidase 4; DPPIV mutant IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:23799078 RGD:13462048 NCBI chr 7:122,826,696...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:23799078 RGD:13462048
decreased circulating alkaline phosphatase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp4 dipeptidylpeptidase 4 IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336 NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901 		JBrowse link
G Dpp4DPPIV dipeptidylpeptidase 4; DPPIV mutant IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336
G Htr7 5-hydroxytryptamine receptor 7 IMP in male RGD PMID:31125290 RGD:14696717 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Htr7em1Msu 5-hydroxytryptamine receptor 7; CRISPR/Cas9 induced mutant 1, Msu IMP in male RGD PMID:31125290 RGD:14696717
decreased circulating aspartate transaminase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp4 dipeptidylpeptidase 4 IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336 NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901 		JBrowse link
G Dpp4DPPIV dipeptidylpeptidase 4; DPPIV mutant IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:23799078 RGD:13462048 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 sexual_dimorphism IMP compared to male wild-type RGD PMID:29906243 PMID:29906243 RGD:38596340, RGD:38596340 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556 		JBrowse link
G Rarres2em1Msu retinoic acid receptor responder 2; CRISPR/Cas9 induced mutant 1, Msu sexual_dimorphism IMP compared to male wild-type RGD PMID:29906243 PMID:29906243 RGD:38596340, RGD:38596340
decreased circulating ceruloplasmin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin IMP RGD PMID:31560858 RGD:38549582 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cpem1Ang ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31560858 RGD:38549582
decreased circulating lactate dehydrogenase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl2 interleukin 1 receptor-like 2 IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167 NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667 		JBrowse link
G Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167
decreased circulating renin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IMP compared to wild type RGD PMID:26077568 RGD:13800514 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsd11b2em1Jmul hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul IMP compared to wild type RGD PMID:26077568 RGD:13800514
decreased glutathione reductase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 IAGP RGD PMID:27871290 RGD:150429989 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:27871290 RGD:150429989
decreased superoxide dismutase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 IAGP RGD PMID:27871290 RGD:150429989 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:27871290 RGD:150429989
G Sod3 superoxide dismutase 3 onset IMP compared to SS/JrHsdMcwi
in lung		 RGD PMID:31972339 PMID:21730301 RGD:150573712, RGD:14369425 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
in lung		 RGD PMID:31972339 PMID:21730301 RGD:150573712, RGD:14369425
increased catalase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 IAGP RGD PMID:27871290 RGD:150429989 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:27871290 RGD:150429989
increased circulating alanine transaminase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP RGD PMID:17303181 RGD:2292672 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:17303181 RGD:2292672
G Lepr leptin receptor IMP
IAGP		 RGD PMID:27225180 PMID:23154293 RGD:12910507, RGD:13432147 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem3 leptin receptor; TALEN induced mutant 3 IMP RGD PMID:27225180 RGD:12910507
G Leprfa leptin receptor; fa mutant IAGP RGD PMID:23154293 RGD:13432147
G P2ry2 purinergic receptor P2Y2 IMP RGD PMID:19155635 RGD:2316657 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		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 alkaline phosphatase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118
G P2ry2 purinergic receptor P2Y2 IMP RGD PMID:19155635 RGD:2316657 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		JBrowse link
increased circulating aspartate transaminase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor sexual_dimorphism IMP females compared to Hsd:SD females RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage sexual_dimorphism IMP females compared to Hsd:SD females RGD PMID:23859880 RGD:13204753
G Gla galactosidase, alpha onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP RGD PMID:28124283 RGD:13703118
G Lepr leptin receptor IMP RGD PMID:27225180 RGD:12910507 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem3 leptin receptor; TALEN induced mutant 3 IMP RGD PMID:27225180 RGD:12910507
increased circulating creatine kinase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25310701 RGD:12880034 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
increased circulating lactate dehydrogenase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il36rn interleukin 36 receptor antagonist IMP RGD PMID:32048631 RGD:126925167 NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Il36rntm1(Myh6-cre)Mhzh interleukin 36 receptor antagonist; tm1, Mhzh IMP RGD PMID:32048631 RGD:126925167
increased creatine kinase level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5420
    homeostasis/metabolism phenotype 1426
      abnormal homeostasis 1327
        abnormal enzyme/coenzyme level 86
          abnormal N-acetylgalactosamine-4-sulfatase level + 0
          abnormal argininosuccinate synthetase level + 0
          abnormal aspartoacylase level + 1
          abnormal beta-galactosidase level + 0
          abnormal beta-mannosidase level + 0
          abnormal biopterin level + 0
          abnormal branched-chain alpha-keto acid dehydrogenase level + 0
          abnormal catalase level + 3
          abnormal ceruloplasmin level + 8
          abnormal cholinesterase level 0
          abnormal circulating enzyme level + 63
          abnormal creatine kinase level + 8
          abnormal galactosylceramidase level + 0
          abnormal glutamic acid decarboxylase level + 0
          abnormal glutathione reductase level + 3
          abnormal glycogen debranching enzyme level + 0
          abnormal hydroxymethylbilane synthase level + 0
          abnormal hypoxanthine-guanine phosphoribosyltransferase level + 0
          abnormal lactate dehydrogenase level + 9
          abnormal nitric oxide synthase level + 0
          abnormal palmitoyl-(protein) hydrolase level + 0
          abnormal phospholipase A2 level + 0
          abnormal superoxide dismutase level + 8
          abnormal tyrosine aminotransferase level + 0
          decreased enzyme/conezyme level + 42
          increased enzyme/coenzyme level + 42
paths to the root