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Ldlr Gene Detail
 Symbol
Name
ID
Ldlr
low density lipoprotein receptor
MGI:96765


Nomenclature History
Genetic Map
Chromosome 9
5.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 32)

Sequence Map
Chr9:21528038-21554360 bp, + strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; hamster, Chinese; rabbit, European; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Ldlr ± 2 cM)
Protein SuperFamily: LDL receptor
TreeFam: TF351700
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000032193 Ensembl Gene Model | MGI Sequence Detail 26323 C57BL/6J ± Kb
transcript NM_010700 RefSeq | MGI Sequence Detail 4531 C57BL/6
polypeptide P35951 UniProt | EBI | MGI Sequence Detail 864 Not Applicable
For the selected sequences
All sequences(51)
Alleles
and
phenotypes
All alleles(29) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(23) Chemically induced(2)
Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (2)   Phenotype Images (7)  
Polymorphisms RFLP(8) SNPs within 2kb(92 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(25)
Process cholesterol homeostasis, cholesterol metabolic process...
Component coated pit, endosome...
Function calcium ion binding, low-density lipoprotein binding...
External Resources: MouseFunc
Expression Literature Summary: (12 records)
Data Summary: Assays (11)    Results (55)    Tissues (21)    Images (9)
Theiler Stages: 1,2,3,4,5,28
  Assay Type Assays   Results
      RT-PCR 1   17
      Northern blot 10   38
cDNA source data(118)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(133) Genomic(6) cDNA(124) Primer pair(2) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000032193
DoTS DT.101162065, DT.101209477, DT.101228881, DT.101235629, DT.101280743, DT.101400484, DT.531817, DT.55195832
UniGene 3213
DFCI TC1572220, TC1596072, TC1596367, TC1621863, TC1650174, TC1666618, TC1738660
NIA Mouse Gene Index U010151
Entrez Gene 16835
International Mouse Knockout Project Status Ldlr
Protein
domains
InterPro ID Description
IPR000033 Low-density lipoprotein receptor, class B (YWTD) repeat
IPR000152 EGF-type aspartate/asparagine hydroxylation site
IPR000742 EGF-like, type 3
IPR001881 EGF-like calcium-binding
IPR002172 Low density lipoprotein-receptor, class A (cysteine-rich) repeat
IPR006209 EGF
IPR006210 EGF-like
IPR011042 Six-bladed beta-propeller, TolB-like
IPR013032 EGF-like region, conserved site
IPR013091 EGF calcium-binding
IPR018097 EGF-like calcium-binding, conserved site
Graphical View of Protein Domain Structure
References
(Earliest) J:30079 Brown MS et al., "A receptor-mediated pathway for cholesterol homeostasis." Science 1986 Apr 4;232(4746):34-47
(Latest) J:153626 Zhou L et al., "LRP1 regulates architecture of the vascular wall by controlling PDGFRbeta-dependent phosphatidylinositol 3-kinase activation." PLoS One 2009;4(9):e6922
All references(517)
Other
accession IDs
MGD-MRK-11774, MGI:2683059

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory