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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 circulating lipid level
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Accession:MP:0003949 term browser browse the term
Definition:anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood
Synonyms:exact_synonym: dyslipidaemia;   dyslipidemia



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decreased circulating aldosterone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfb complement factor B IMP compared to wild type SHR RGD PMID:28739975 RGD:127285403 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfbem1Tja complement factor B, ZFN induced mutant 1, Tja IMP compared to wild type SHR RGD PMID:28739975 RGD:127285403
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:28931751 RGD:38500204 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
JBrowse link
G Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi RGD PMID:28931751 RGD:38500204
decreased circulating cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfb complement factor B IMP compared to wild type SHR RGD PMID:28739975 RGD:127285403 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfbem1Tja complement factor B, ZFN induced mutant 1, Tja IMP compared to wild type SHR RGD PMID:28739975 RGD:127285403
G Fmr1 fragile X messenger ribonucleoprotein 1 IMP compared to wild type RGD PMID:35328827 RGD:405100966 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP compared to wild type RGD PMID:35328827 RGD:405100966
G Gla galactosidase, alpha IMP compared to Wild type female 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 IMP compared to Wild type female RGD PMID:29979634 RGD:401976416
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
G Zbtb16 zinc finger and BTB domain containing 16 IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
JBrowse link
G Zbtb16em1Ipcv zinc finger and BTB domain containing 16; TALEN induced mutant 1, Ipcv IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623
decreased circulating corticosterone 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 Tspo translocator protein induces IMP RGD PMID:29074640 RGD:150429771 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
JBrowse link
G Tspoem1Vpl translocator protein; ZFN induced mutant1, Vpl induces IMP RGD PMID:29074640 RGD:150429771
G Tspoem2Vpl translocator protein; ZFN induced mutant2, Vpl induces IMP RGD PMID:29074640 RGD:150429771
decreased circulating free fatty acids level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule IMP RGD PMID:11175782 PMID:14640889 RGD:68930, RGD:1600636 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
decreased circulating HDL cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:30796231 RGD:150521536 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
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 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 circulating LDL cholesterol 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 circulating triglyceride level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl8 angiopoietin-like 8 induces IMP compared to wild type rats RGD PMID:30042156 PMID:30042156 RGD:38549347, RGD:38549347 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
JBrowse link
G Angptl8em1Kyo angiopoietin-like 8; CRISPR/Cas9 induced mutant 1, Kyo induces IMP compared to wild type rats RGD PMID:30042156 PMID:30042156 RGD:38549347, RGD:38549347
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
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
G Zbtb16 zinc finger and BTB domain containing 16 IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
JBrowse link
G Zbtb16em1Ipcv zinc finger and BTB domain containing 16; TALEN induced mutant 1, Ipcv IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623
decreased circulating VLDL triglyceride level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl8 angiopoietin-like 8 IMP compared to wild type rats RGD PMID:30042156 RGD:38549347 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
JBrowse link
G Angptl8em1Kyo angiopoietin-like 8; CRISPR/Cas9 induced mutant 1, Kyo IMP compared to wild type rats RGD PMID:30042156 RGD:38549347
hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IAGP compared to heterozygous controls +/fa RGD PMID:11500530 RGD:628581 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprfa leptin receptor; fa mutant IAGP compared to heterozygous controls +/fa RGD PMID:11500530 RGD:628581
increased circulating aldosterone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IAGP RGD PMID:11832364 RGD:727991 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
increased circulating cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:30796231 RGD:150521536 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
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 Lep leptin IMP DNA:nonsense mutation:cds: RGD PMID:23800849 RGD:8549777 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepm1Kyo leptin; ENU induced mutant1, Kyo IMP RGD PMID:23800849 RGD:8549777
G Lepr leptin receptor disease_progression IMP
IAGP
DNA:mutations:cds: : (rat) RGD PMID:27225180 PMID:10901178 PMID:28746409 PMID:30278832 PMID:27465994 More... RGD:12910507, RGD:401965414, RGD:401965413, RGD:401960095, RGD:12911217, RGD:12911216, RGD:13432147 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 disease_progression IMP RGD PMID:27465994 RGD:12911217
G Leprem3 leptin receptor; TALEN induced mutant 3 IMP RGD PMID:27225180 RGD:12910507
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP compared to wild type littermate RGD PMID:26537785 RGD:12911216
G Leprfa leptin receptor; fa mutant IAGP RGD PMID:23154293 RGD:13432147
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:24244710 PMID:23799078 RGD:12880447, 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:24244710 RGD:12880447
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
increased circulating corticosterone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IAGP RGD PMID:11832364 RGD:727991 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Nrg1 neuregulin 1 IMP DNA:transposon insertion RGD PMID:21092742 RGD:10449008 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Nrg1Tn(sb-T2/Bart3)2.183Mcwi neuregulin 1; transposon insertion 2.183, Medical College of Wisconsin IMP compared to wild-type RGD PMID:21092742 RGD:10449008
increased circulating free fatty acids level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase IDA overexpression sufficient to lower blood glucose significantly increased circulating FFA and TG levels (p<0.05) RGD PMID:10512368 RGD:2301945 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Ldlr low density lipoprotein receptor IMP RGD PMID:28469073 RGD:12910100 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
increased circulating HDL cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lep leptin IMP RGD PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepr leptin receptor IMP RGD PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP compared to wild type littermate RGD PMID:26537785 RGD:12911216
increased circulating LDL cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:30796231 RGD:150521536 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Lep leptin IMP RGD PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepr leptin receptor IMP RGD PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP compared to wild type littermate RGD PMID:26537785 RGD:12911216
increased circulating triglyceride level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Gck glucokinase IDA overexpression sufficient to lower blood glucose significantly increased circulating FFA and TG levels (p<0.05) RGD PMID:10512368 RGD:2301945 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
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 Lep leptin IMP DNA:nonsense mutation:cds: RGD PMID:23800849 RGD:8549777 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepm1Kyo leptin; ENU induced mutant1, Kyo IMP RGD PMID:23800849 RGD:8549777
G Lepr leptin receptor treatment
disease_progression
IMP
IAGP
compared to ad lib fed rats RGD PMID:27225180 PMID:11500530 PMID:27465994 PMID:26537785 RGD:12910507, RGD:628581, RGD:12911217, RGD:12911216 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 disease_progression IMP RGD PMID:27465994 RGD:12911217
G Leprem3 leptin receptor; TALEN induced mutant 3 IMP RGD PMID:27225180 RGD:12910507
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP compared to wild type littermate RGD PMID:26537785 RGD:12911216
G Leprfa leptin receptor; fa mutant treatment IAGP compared to ad lib fed rats RGD PMID:11500530 RGD:628581
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5402
    homeostasis/metabolism phenotype 1418
      abnormal homeostasis 1319
        abnormal blood homeostasis 760
          abnormal circulating lipid level 307
            abnormal circulating cholesterol level + 170
            abnormal circulating free fatty acids level + 38
            abnormal circulating glucocorticoid level + 60
            abnormal circulating glycerol level + 1
            abnormal circulating mineralocorticoid level + 11
            abnormal circulating phospholipid level + 7
            abnormal circulating phytosterol level + 0
            abnormal circulating triglyceride level + 124
            hyperlipidemia 7
            hypolipidemia 0
Path 2
Term Annotations click to browse term
  mammalian phenotype 5402
    homeostasis/metabolism phenotype 1418
      abnormal homeostasis 1319
        abnormal lipid homeostasis 361
          abnormal lipid level 356
            abnormal circulating lipid level 307
              abnormal circulating cholesterol level + 170
              abnormal circulating free fatty acids level + 38
              abnormal circulating glucocorticoid level + 60
              abnormal circulating glycerol level + 1
              abnormal circulating mineralocorticoid level + 11
              abnormal circulating phospholipid level + 7
              abnormal circulating phytosterol level + 0
              abnormal circulating triglyceride level + 124
              hyperlipidemia 7
              hypolipidemia 0
paths to the root