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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 level
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Accession:MP:0003947 term browser browse the term
Definition:anomaly in the amount in the body of 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 chr10:45,507,152...45,529,164 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 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 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:102,062,497...102,073,915 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 1:243,049,064...243,173,636 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 8:57,885,886...58,073,507 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 1:88,481,889...88,485,816 JBrowse link
G Atp7b ATPase copper transporting beta IAGP RGD PMID:17303181 RGD:2292672 NCBI chr16:76,654,725...76,726,092 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 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 JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:27871290 RGD:150429989
decreased liver cholesterol level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 Zbtb16 zinc finger and BTB domain containing 16 IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623 NCBI chr 8:57,885,886...58,073,507 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 1:88,481,889...88,485,816 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 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:122,038,734...122,087,745 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 4:58,626,529...58,640,663 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 5:121,409,735...121,593,201 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 7:124,706,246...124,867,234 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 chr18:62,689,798...62,691,685 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 4:58,626,529...58,640,663 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 5:121,409,735...121,593,201 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 1:88,481,889...88,485,816 JBrowse link
G Lep leptin IMP RGD PMID:22948215 RGD:12904911 NCBI chr 4:58,626,529...58,640,663 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 5:121,409,735...121,593,201 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 chr16:76,654,725...76,726,092 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 JBrowse link
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5421
    homeostasis/metabolism phenotype 1426
      abnormal homeostasis 1327
        abnormal lipid homeostasis 364
          abnormal cholesterol homeostasis 194
            abnormal cholesterol level 194
              abnormal brain cholesterol level + 1
              abnormal circulating cholesterol level + 170
              abnormal feces cholesterol level + 0
              abnormal liver cholesterol level + 16
              abnormal lung cholesterol level + 0
              decreased cholesterol level + 51
              increased cholesterol level + 151
Path 2
Term Annotations click to browse term
  mammalian phenotype 5421
    homeostasis/metabolism phenotype 1426
      abnormal homeostasis 1327
        abnormal lipid homeostasis 364
          abnormal lipid level 359
            abnormal sterol level 195
              abnormal cholesterol level 194
                abnormal brain cholesterol level + 1
                abnormal circulating cholesterol level + 170
                abnormal feces cholesterol level + 0
                abnormal liver cholesterol level + 16
                abnormal lung cholesterol level + 0
                decreased cholesterol level + 51
                increased cholesterol level + 151
paths to the root