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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 cholesterol homeostasis
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Accession:MP:0005278 term browser browse the term
Definition:anomaly in the processes involved in the maintenance of an internal equilibrium of cholesterol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues



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decreased cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 IAGP RGD PMID:18071061 RGD:1643359 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 IAGP RGD PMID:18071061 RGD:1643359
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 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 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
decreased liver cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 1:205,731,814...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
RGD PMID:27225180 PMID:27465994 PMID:26537785 PMID:23154293 RGD:12910507, 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 7:122,826,712...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 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 liver cholesterol 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 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

Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5368
    homeostasis/metabolism phenotype 1392
      abnormal homeostasis 1298
        abnormal lipid homeostasis 350
          abnormal cholesterol homeostasis 184
            abnormal cholesterol level + 184
paths to the root