Ldlr
Gene Detail

Symbol Name ID

Ldlr low density lipoprotein receptor MGI:96765

Feature Type

protein coding gene

Genetic Map

Chromosome 9

7.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(32)

Sequence Map

Chr9:21723576-21749916 bp, + strand From Ensembl annotation of GRCm38   26341 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; hamster, Chinese; rabbit, European    (Mammalian Orthology)
Comparative Map (Mouse/Human Ldlr ± 2 cM)

Gene Tree: Ldlr

Human ortholog

LDLR low density lipoprotein receptor NCBI Gene ID 3949
Human Synonyms: FH, FHC, LDLCQ2
Human Chr19:11200057-11244506 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human LDLR (1)

Alleles and phenotypes

All alleles(35) : Targeted(9) Gene trapped(24) 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.

 
Human Diseases Modeled Using Mouse Ldlr (4)    Alleles Annotated to Human Diseases(2)    Phenotype Images(7)

Gene Ontology (GO) classifications

All GO classifications: (46 annotations)

Process	cholesterol homeostasis, cholesterol import, ...
Component	caveola, cell surface, ...
Function	calcium ion binding, glycoprotein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (20 records)
Data Summary: Results (177)    Tissues (55)    Images (31)
Theiler Stages: 1, 2, 3, 4, 5, 12, 23, 28

Assay Type	Results
RNA in situ	120
Northern blot	38
RT-PCR	19

cDNA source data(121)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(137) Genomic(6) cDNA(127) Primer pair(3) Other(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000032193 (Evidence)
Entrez Gene	16835 (Evidence)
UniGene	3213
DFCI	TC1572220, TC1596072, TC1596367, TC1621863, TC1650174, TC1666618, TC1738660
DoTS	DT.101162065, DT.101209477, DT.101228881, DT.101235629, DT.101280743, DT.101400484, DT.531817, DT.55195832
NIA Mouse Gene Index	U010151
Consensus CDS Project	CCDS22910.1
International Mouse Knockout Project Status	Ldlr

Sequences

Length	Strain/Species
genomic	ENSMUSG00000032193	Ensembl Gene Model | MGI Sequence Detail	26341	C57BL/6J
transcript	ENSMUST00000034713	Ensembl | MGI Sequence Detail	4531	Not Applicable
polypeptide	ENSMUSP00000034713	Ensembl | MGI Sequence Detail	862	Not Applicable

All sequences(59) RefSeq(6) UniProt(8)

Polymorphisms

RFLP(8) : SNPs(91 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001881	EGF-like calcium-binding
InterPro	IPR018097	EGF-like calcium-binding, conserved site
InterPro	IPR013032	EGF-like, conserved site
InterPro	IPR000152	EGF-type aspartate/asparagine hydroxylation site
InterPro	IPR000742	Epidermal growth factor-like domain
InterPro	IPR009030	Growth factor, receptor
InterPro	IPR000033	LDLR class B repeat
InterPro	IPR023415	Low-density lipoprotein (LDL) receptor class A, conserved site
InterPro	IPR002172	Low-density lipoprotein (LDL) receptor class A repeat
InterPro	IPR011042	Six-bladed beta-propeller, TolB-like
Protein Ontology	PR:000009744	low-density lipoprotein receptor

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:193795 Robbins CS, et al., Extramedullary hematopoiesis generates Ly-6C(high) monocytes that infiltrate atherosclerotic lesions. Circulation. 2012 Jan 17;125(2):364-74
All references(778)

Other accession IDs

MGD-MRK-11774, MGI:2683059