Ldlr (low density lipoprotein receptor) - Rat Genome Database

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Gene: Ldlr (low density lipoprotein receptor) Mus musculus
Symbol: Ldlr
Name: low density lipoprotein receptor
RGD ID: 10864
Description: Enables several functions, including amyloid-beta binding activity; low-density lipoprotein particle binding activity; and low-density lipoprotein particle receptor activity. Involved in several processes, including endocytosis; regulation of inflammatory response; and regulation of lipid metabolic process. Acts upstream of or within several processes, including cholesterol homeostasis; lipoprotein catabolic process; and low-density lipoprotein particle clearance. Located in several cellular components, including basolateral plasma membrane; endosome; and lysosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; musculoskeletal system; and paravertebral ganglion. Used to study familial hypercholesterolemia and fatty liver disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; arteriosclerosis; familial hypercholesterolemia; hepatitis C; and migraine without aura. Orthologous to human LDLR (low density lipoprotein receptor).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Hlb301; LDL receptor; low-density lipoprotein receptor
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39921,634,872 - 21,661,215 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl921,634,779 - 21,661,215 (+)EnsemblGRCm39 Ensembl
GRCm38921,723,576 - 21,749,919 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,723,483 - 21,749,919 (+)EnsemblGRCm38mm10GRCm38
MGSCv37921,528,038 - 21,554,363 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36921,474,180 - 21,498,819 (+)NCBIMGSCv36mm8
Celera918,993,187 - 19,019,513 (+)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.87NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-isolariciresinol  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-trans-epsilon-viniferin  (ISO)
(1->4)-beta-D-glucan  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(2R,4R)-1-[(2S)-5-(diaminomethylideneamino)-2-[(3-methyl-1,2,3,4-tetrahydroquinolin-8-yl)sulfonylamino]-1-oxopentyl]-4-methyl-2-piperidinecarboxylic acid  (EXP)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (EXP)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
11-dehydro-thromboxane B2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-bromohexadecanoic acid  (ISO)
2-butoxyethanol  (EXP)
2-methylcholine  (ISO)
22-Hydroxycholesterol  (ISO)
25-hydroxycholesterol  (EXP,ISO)
26-hydroxycholesterol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxy-TEMPO  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (ISO)
acrylamide  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (ISO)
albuterol  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
ampicillin  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arachidonic acid  (EXP,ISO)
Archazolid B  (ISO)
argatroban  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
atazanavir sulfate  (ISO)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
aucubin  (EXP)
avobenzone  (ISO)
Azaspiracid  (ISO)
azoxystrobin  (ISO)
bathocuproine disulfonic acid  (ISO)
benzalkonium chloride  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
berberine  (EXP,ISO)
bicalutamide  (ISO)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
butan-1-ol  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calciol  (ISO)
calcitriol  (ISO)
captan  (EXP)
carbamazepine  (EXP,ISO)
carbofuran  (ISO)
carbon nanotube  (EXP,ISO)
carmustine  (ISO)
celastrol  (ISO)
chenodeoxycholic acid  (ISO)
chlordecone  (EXP)
chloroquine  (EXP)
chlorpromazine  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
choline  (EXP)
chromium(6+)  (EXP,ISO)
ciguatoxin CTX1B  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clozapine  (EXP,ISO)
cobalt dichloride  (ISO)
colesevelam hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (ISO)
cortisol  (ISO)
coumestrol  (ISO)
crocidolite asbestos  (ISO)
crocin-1  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (ISO)
cyclosporin A  (ISO)
cyproconazole  (EXP)
D-glucose  (EXP)
deoxycholic acid  (ISO)
desmosterol  (EXP)
desogestrel  (ISO)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (ISO)
diazinon  (ISO)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (EXP,ISO)
dicrotophos  (ISO)
Dicyclohexyl phthalate  (ISO)
dieldrin  (ISO)
diethyl maleate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (EXP)
dinophysistoxin 1  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (ISO)
epoxiconazole  (EXP,ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (ISO)
ezetimibe  (ISO)
fenthion  (EXP)
flufenamic acid  (ISO)
fluoranthene  (EXP)
flusilazole  (EXP)
flutamide  (ISO)
fluvastatin  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (ISO)
gallic acid  (ISO)
Ganoderic acid A  (EXP,ISO)
gedunin  (ISO)
genistein  (EXP)
geraniol  (EXP)
Ginsenoside Rh4  (EXP)
glucose  (EXP)
glycochenodeoxycholic acid  (ISO)
glycocholic acid  (ISO)
glycodeoxycholic acid  (ISO)
graphene oxide  (EXP)
GW 3965  (ISO)
haloperidol  (ISO)
hexaconazole  (EXP)
hexadecanoic acid  (ISO)
hydrazine  (EXP)
hydrogen peroxide  (EXP,ISO)
ibuprofen  (ISO)
indometacin  (EXP,ISO)
isobutanol  (ISO)
isoflavones  (ISO)
isotretinoin  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (EXP)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
leflunomide  (EXP,ISO)
levonorgestrel  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (EXP)
lovastatin  (EXP,ISO)
lycopene  (ISO)
menadione  (ISO)
metformin  (EXP,ISO)
methyl methanesulfonate  (ISO)
methylarsonic acid  (EXP)
methylmercury chloride  (ISO)
metronidazole  (EXP)
microcystin-LR  (EXP)
mifepristone  (ISO)
mitogen  (EXP)
monocrotophos  (ISO)
monosodium L-glutamate  (EXP)
N-desethylamiodarone  (ISO)
nefazodone  (ISO)
neomycin  (EXP)
nickel atom  (ISO)
nickel dichloride  (ISO)
nicotine  (ISO)
obeticholic acid  (ISO)
okadaic acid  (ISO)
olanzapine  (EXP,ISO)
oleic acid  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
Phenelzine  (EXP)
phenobarbital  (EXP,ISO)
phenylephrine  (ISO)
phenylmercury acetate  (ISO)
phenylpropanolamine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phosgene  (EXP)
pioglitazone  (EXP)
pirinixic acid  (EXP,ISO)
piroxicam  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pravastatin  (EXP,ISO)
proanthocyanidin  (ISO)
progesterone  (EXP,ISO)
propamocarb  (EXP)
pterostilbene  (ISO)
puerarin  (ISO)
puromycin  (ISO)
quercetin  (ISO)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
raloxifene  (ISO)
rebaudioside A  (EXP)
resveratrol  (ISO)
rifampicin  (EXP)
risperidone  (EXP)
rotenone  (ISO)
rottlerin  (ISO)
SB 431542  (ISO)
selenium atom  (EXP,ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sotorasib  (ISO)
steviol  (EXP)
stevioside  (EXP)
streptozocin  (EXP)
sucrose  (ISO)
sulindac sulfide  (ISO)
sunitinib  (ISO)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
trametinib  (ISO)
triadimefon  (EXP,ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP,ISO)
triphenylstannane  (ISO)
triptonide  (EXP)
tris(2-chloroethyl) phosphate  (EXP)
troglitazone  (ISO)
trovafloxacin  (EXP)
tunicamycin  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (EXP)
vinclozolin  (ISO)
vorinostat  (ISO)
Yessotoxin  (ISO)
zearalenone  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid-beta clearance  (IGI)
amyloid-beta clearance by cellular catabolic process  (IDA)
artery morphogenesis  (IMP)
cellular response to fatty acid  (IGI)
cellular response to low-density lipoprotein particle stimulus  (ISO)
cholesterol homeostasis  (IBA,IGI,IMP,ISO)
cholesterol import  (IMP,ISO)
cholesterol metabolic process  (IMP)
cholesterol transport  (IMP,ISO)
endocytosis  (ISO)
establishment of localization in cell  (IMP)
high-density lipoprotein particle clearance  (IGI)
intestinal cholesterol absorption  (ISO)
lipid metabolic process  (IGI)
lipid transport  (IEA)
lipoprotein catabolic process  (IDA,IMP)
lipoprotein metabolic process  (IGI)
long-term memory  (IGI,ISO)
low-density lipoprotein particle clearance  (IDA,IMP,ISO)
negative regulation of amyloid fibril formation  (IGI)
negative regulation of astrocyte activation  (IGI)
negative regulation of gene expression  (IMP)
negative regulation of low-density lipoprotein particle clearance  (ISO)
negative regulation of microglial cell activation  (IGI)
negative regulation of protein metabolic process  (IDA)
negative regulation of receptor recycling  (ISO)
phagocytosis  (IDA)
phospholipid transport  (IMP)
plasma lipoprotein particle clearance  (IDA)
positive regulation of gene expression  (IGI,IMP)
positive regulation of inflammatory response  (IGI)
positive regulation of lysosomal protein catabolic process  (IDA)
positive regulation of triglyceride biosynthetic process  (IMP)
positive regulation of triglyceride catabolic process  (ISO)
receptor-mediated endocytosis  (IDA)
receptor-mediated endocytosis involved in cholesterol transport  (IBA,ISO)
regulation of cholesterol metabolic process  (IGI)
regulation of phosphatidylcholine catabolic process  (IMP)
regulation of protein metabolic process  (IGI,ISO)
response to caloric restriction  (IGI,ISO)
response to estradiol  (ISO)
response to estrogen  (ISO)
response to ethanol  (ISO)
response to glucagon  (ISO)
response to hormone  (ISO)
response to hypoxia  (ISO)
steroid metabolic process  (IEA)
transcytosis  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abdominal aorta aneurysm  (IAGP)
abnormal adrenal gland morphology  (IAGP)
abnormal adrenal gland zona fasciculata morphology  (IAGP)
abnormal aorta bulb morphology  (IAGP)
abnormal aorta elastic fiber morphology  (IAGP)
abnormal aorta elastic tissue morphology  (IAGP)
abnormal aortic valve morphology  (IAGP)
abnormal arteriole morphology  (IAGP)
abnormal artery morphology  (IAGP)
abnormal ascending aorta morphology  (IAGP)
abnormal astrocyte morphology  (IAGP)
abnormal auditory brainstem response  (IEA)
abnormal beige fat cell morphology  (IAGP)
abnormal bile secretion  (IAGP)
abnormal blood coagulation  (IAGP)
abnormal brain morphology  (IAGP)
abnormal Bruch membrane morphology  (IAGP)
abnormal cardiovascular system physiology  (IAGP)
abnormal cellular extravasation  (IAGP)
abnormal cerebellum morphology  (IAGP)
abnormal cholesterol homeostasis  (IAGP)
abnormal cholesterol level  (IAGP)
abnormal choriocapillaris morphology  (IAGP)
abnormal circulating amino acid level  (IAGP)
abnormal circulating apolipoprotein E level  (IAGP)
abnormal circulating apolipoprotein level  (IAGP)
abnormal circulating cholesterol level  (IAGP)
abnormal circulating enzyme level  (IAGP)
abnormal circulating LDL cholesterol level  (IAGP)
abnormal circulating lipid level  (IAGP)
abnormal circulating protein level  (IAGP)
abnormal circulating VLDL cholesterol level  (IAGP)
abnormal CNS glial cell morphology  (IAGP)
abnormal dermal layer morphology  (IAGP)
abnormal epididymal fat pad morphology  (IAGP)
abnormal eye electrophysiology  (IAGP)
abnormal fasting circulating glucose level  (IAGP)
abnormal fat pad morphology  (IAGP)
abnormal feces composition  (IAGP)
abnormal food intake  (IAGP)
abnormal glucose homeostasis  (IAGP)
abnormal heart left ventricle morphology  (IAGP)
abnormal heart ventricles weight  (IAGP)
abnormal hippocampus morphology  (IAGP)
abnormal impulse conducting system conduction  (IAGP)
abnormal interleukin secretion  (IAGP)
abnormal leukocyte migration  (IAGP)
abnormal lipid homeostasis  (IAGP)
abnormal lipid level  (IAGP)
abnormal liver morphology  (IAGP)
abnormal liver physiology  (IAGP)
abnormal long-term spatial reference memory  (IAGP)
abnormal macrophage derived foam cell morphology  (IAGP)
abnormal macrophage physiology  (IAGP)
abnormal microglial cell morphology  (IAGP)
abnormal microglial cell physiology  (IAGP)
abnormal Purkinje cell morphology  (IAGP)
abnormal response to cardiac infarction  (IAGP)
abnormal response to CNS ischemic injury  (IAGP)
abnormal response to new environment  (IAGP)
abnormal response/metabolism to endogenous compounds  (IAGP)
abnormal retina pigment epithelium morphology  (IAGP)
abnormal short-term spatial reference memory  (IAGP)
abnormal spatial learning  (IAGP)
abnormal spatial working memory  (IAGP)
abnormal ST segment  (IAGP)
abnormal sterol level  (IAGP)
abnormal susceptibility to atherosclerosis  (IAGP)
abnormal synapse morphology  (IAGP)
abnormal synaptic bouton morphology  (IAGP)
abnormal thrombosis  (IAGP)
abnormal triglyceride level  (IAGP)
abnormal uterine fat pad morphology  (IAGP)
abnormal vascular smooth muscle physiology  (IAGP)
alopecia  (IAGP)
amyloid beta deposits  (IAGP)
amyloidosis  (IAGP)
aortic aneurysm  (IAGP)
aortic valve stenosis  (IAGP)
aortitis  (IAGP)
arteriosclerosis  (IAGP)
artery occlusion  (IAGP)
atherosclerotic lesions  (IAGP)
blood vessel inflammation  (IAGP)
calcified aortic valve  (IAGP)
cardiac fibrosis  (IAGP)
cardiac hypertrophy  (IAGP)
decreased anxiety-related response  (IAGP)
decreased aorta wall thickness  (IAGP)
decreased body weight  (IAGP)
decreased brain cholesterol level  (IAGP)
decreased cardiac muscle contractility  (IAGP)
decreased cerebral infarct size  (IAGP)
decreased cholesterol level  (IAGP)
decreased circulating cholesterol level  (IAGP)
decreased circulating corticosterone level  (IAGP)
decreased circulating glucose level  (IAGP)
decreased circulating HDL cholesterol level  (IAGP)
decreased circulating insulin level  (IAGP)
decreased circulating interleukin-10 level  (IAGP)
decreased circulating LDL cholesterol level  (IAGP)
decreased circulating triglyceride level  (IAGP)
decreased circulating troponin level  (IAGP)
decreased circulating unsaturated transferrin level  (IEA)
decreased circulating VLDL cholesterol level  (IAGP)
decreased circulating VLDL triglyceride level  (IAGP)
decreased corpus callosum size  (IAGP)
decreased IgG level  (IAGP)
decreased interferon-gamma secretion  (IAGP)
decreased lean body mass  (IAGP)
decreased lipoprotein lipase activity  (IAGP)
decreased liver cholesterol level  (IAGP)
decreased liver triglyceride level  (IAGP)
decreased locomotor activity  (IEA)
decreased macrophage apoptosis  (IAGP)
decreased macrophage cell number  (IAGP)
decreased myocardial infarct size  (IAGP)
decreased partial thromboplastin time  (IAGP)
decreased percent body fat/body weight  (IAGP)
decreased physiological sensitivity to xenobiotic  (IAGP)
decreased prothrombin time  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased survivor rate  (IAGP)
decreased susceptibility to atherosclerosis  (IAGP)
decreased susceptibility to diet-induced obesity  (IAGP)
decreased susceptibility to hyperlipidemia  (IAGP)
decreased susceptibility to induced aneurysm formation  (IAGP)
decreased susceptibility to ischemic brain injury  (IAGP)
decreased susceptibility to weight gain  (IAGP)
decreased total body fat amount  (IAGP)
decreased tumor necrosis factor secretion  (IAGP)
dilated aorta  (IAGP)
dry eyes  (IAGP)
gallstones  (IEA)
heart left ventricle hypertrophy  (IAGP)
hepatic steatosis  (IAGP)
hyperactivity  (IAGP)
hyperglycemia  (IAGP)
hyperlipidemia  (IAGP)
hypertension  (IAGP)
impaired glucose tolerance  (IAGP)
impaired leukocyte tethering or rolling  (IAGP)
impaired macrophage chemotaxis  (IAGP)
impaired macrophage phagocytosis  (IAGP)
improved glucose tolerance  (IAGP)
increased aorta wall thickness  (IAGP)
increased apoptosis  (IAGP)
increased body weight  (IAGP)
increased cardiac output  (IAGP)
increased cardiac stroke volume  (IAGP)
increased cholesterol level  (IAGP)
increased circulating alanine transaminase level  (IAGP)
increased circulating antithrombin level  (IAGP)
increased circulating cholesterol level  (IAGP)
increased circulating factor VIII level  (IAGP)
increased circulating free fatty acids level  (IAGP)
increased circulating glucose level  (IAGP)
increased circulating HDL cholesterol level  (IAGP)
increased circulating insulin level  (IAGP)
increased circulating interleukin-1 beta level  (IAGP)
increased circulating interleukin-10 level  (IAGP)
increased circulating interleukin-6 level  (IAGP)
increased circulating iron level  (IEA)
increased circulating LDL cholesterol level  (IAGP)
increased circulating prothrombin level  (IAGP)
increased circulating triglyceride level  (IAGP)
increased circulating tumor necrosis factor level  (IAGP)
increased circulating VLDL cholesterol level  (IAGP)
increased circulating VLDL triglyceride level  (IAGP)
increased circulating von Willebrand factor level  (IAGP)
increased food intake  (IAGP)
increased grip strength  (IAGP)
increased hepatocyte apoptosis  (IAGP)
increased IgM level  (IAGP)
increased leukocyte cell number  (IAGP)
increased liver cholesterol level  (IAGP)
increased liver triglyceride level  (IAGP)
increased liver weight  (IAGP)
increased locomotor activity  (IAGP)
increased lymphocyte cell number  (IAGP)
increased macrophage derived foam cell number  (IEA)
increased mean corpuscular volume  (IEA)
increased monocyte cell number  (IAGP)
increased neutrophil cell number  (IAGP)
increased percent body fat/body weight  (IAGP)
increased pruritus  (IAGP)
increased susceptibility to atherosclerosis  (IAGP)
increased susceptibility to diet-induced aortic fatty streak lesions  (IAGP)
increased susceptibility to induced morbidity/mortality  (IAGP)
increased susceptibility to weight gain  (IAGP)
increased T cell number  (IAGP)
increased total body fat amount  (IAGP)
insulin resistance  (IAGP)
liver fibrosis  (IAGP)
liver inflammation  (IAGP)
macrovesicular hepatic steatosis  (IAGP)
maternal effect  (IAGP)
Meibomian gland atrophy  (IAGP)
microvesicular hepatic steatosis  (IAGP)
no abnormal phenotype detected  (IAGP)
obese  (IAGP)
oxidative stress  (IAGP)
photoreceptor outer segment degeneration  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
retina detachment  (IEA)
scaly skin  (IAGP)
skin edema  (IAGP)
skin inflammation  (IAGP)
skin lesions  (IAGP)
slow postnatal weight gain  (IAGP)
spontaneous skin ulceration  (IAGP)
thick dermal layer  (IAGP)
thick skin  (IAGP)
vascular smooth muscle hypoplasia  (IAGP)
xanthoma  (IAGP)

References - curated
# Reference Title Reference Citation
1. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Abifadel M, etal., Nat Genet. 2003 Jun;34(2):154-6.
2. Hypercholesterolemia and atherosclerosis in low density lipoprotein receptor mutant rats. Asahina M, etal., Biochem Biophys Res Commun. 2012 Feb 17;418(3):553-8. doi: 10.1016/j.bbrc.2012.01.067. Epub 2012 Jan 24.
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