ENSMUSG00000027070


Mus musculus

Features
Gene ID: ENSMUSG00000027070
  
Biological name :Lrp2
  
Synonyms : A2ARV4 / low density lipoprotein receptor-related protein 2 / Lrp2
  
Possible biological names infered from orthology : LDL receptor related protein 2 / P98164
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: C2
Gene start: 69424340
Gene end: 69586065
  
Corresponding Affymetrix probe sets: 10483439 (MoGene1.0st)   1427133_s_at (Mouse Genome 430 2.0 Array)   1445901_at (Mouse Genome 430 2.0 Array)   1452320_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000079752
Ensembl peptide - ENSMUSP00000097628
Ensembl peptide - ENSMUSP00000090212
NCBI entrez gene - 14725     See in Manteia.
MGI - MGI:95794
RefSeq - NM_001081088
RefSeq Peptide - NP_001074557
swissprot - A2ARV5
swissprot - A2ARV4
swissprot - Q3V346
Ensembl - ENSMUSG00000027070
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrp2aENSDARG00000102506Danio rerio
 LRP2ENSGALG00000010858Gallus gallus
 LRP2ENSG00000081479Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Lrp1 / LDL receptor related protein 1 / Q07954*ENSMUSG0000004024936
Lrp1b / LDL receptor related protein 1B / Q9NZR2*ENSMUSG0000004925234
Lrp4 / Q8VI56 / Low-density lipoprotein receptor-related protein 4 / O75096* / LDL receptor related protein 4*ENSMUSG0000002725315
Gm19410ENSMUSG0000010937213
Lrp6 / LDL receptor related protein 6 / O75581*ENSMUSG0000003020112
Lrp5 / Q91VN0 / Low-density lipoprotein receptor-related protein 5 / O75197* / LDL receptor related protein 5*ENSMUSG0000002491311
Vldlr / P98156 / very low density lipoprotein receptor / P98155*ENSMUSG000000249247
Ldlr / P35951 / Low-density lipoprotein receptor / P01130*ENSMUSG000000321936
Lrp8 / Q924X6 / Low-density lipoprotein receptor-related protein 8 / Q14114* / LDL receptor related protein 8*ENSMUSG000000286136


Protein motifs (from Interpro)
Interpro ID Name
 IPR000033  LDLR class B repeat
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR013032  EGF-like, conserved site
 IPR018097  EGF-like calcium-binding, conserved site
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR036055  LDL receptor-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0003139 secondary heart field specification IMP
 biological_processGO:0003148 outflow tract septum morphogenesis IMP
 biological_processGO:0003223 ventricular compact myocardium morphogenesis IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0006766 vitamin metabolic process IMP
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006898 receptor-mediated endocytosis IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0030001 metal ion transport IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IMP
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0050769 positive regulation of neurogenesis IMP
 biological_processGO:0060068 vagina development IMP
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:0060982 coronary artery morphogenesis IMP
 biological_processGO:0061156 pulmonary artery morphogenesis IMP
 biological_processGO:0070447 positive regulation of oligodendrocyte progenitor proliferation IMP
 biological_processGO:0140058 neuron projection arborization IMP
 biological_processGO:1904447 folate import across plasma membrane IMP
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005903 brush border IDA
 cellular_componentGO:0005905 clathrin-coated pit IDA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031526 brush border membrane IDA
 cellular_componentGO:0031904 endosome lumen IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043235 receptor complex IEA
 cellular_componentGO:0045177 apical part of cell IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008144 drug binding ISS
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0035258 steroid hormone receptor binding ISS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051087 chaperone binding ISO


Pathways (from Reactome)
Pathway description
Vitamin D (calciferol) metabolism
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Retinoid metabolism and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Senp1Gt(OST215108)Lex/Senp1Gt(OST215108)Lex
Genetic Background: B6;129S5-Senp1Gt(OST215108)Lex/Orl

 MP:0000195 hypocalcemia "subnormal concentrations of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

 MP:0000276 right ventricle hypertrophy "increased size of the right ventricle" [J:33629]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Pcntm239Asp/Pcnt+,Tg(mI56i-lacZ)1Mekk/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
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Allelic Composition: Pcntm239Asp/Pcnt+,Tg(mI56i-lacZ)1Mekk/0
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0000820 abnormal choroid plexus morphology "malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000821 choroid plexus hyperplasia "increased cell number in the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
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Allelic Composition: Pcntm239Asp/Pcnt+,Tg(mI56i-lacZ)1Mekk/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Pcntm239Asp/Pcnt+,Tg(mI56i-lacZ)1Mekk/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Lrp2m267Asp/Lrp2m267Asp
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0000936 small telencephalic vesicles "reduced size of the paired diverticula of the telencephalon, from which the forebrain develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001123 dilated uterus "stretched or enlarged female muscular organ of gestation" [J:50844]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001183 overexpanded alveoli "expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Thratm4.1Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6NCrl * FVB/N

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001775 abnormal selenium level "anomalous concentration of this essential trace element, required for glutathione peroxidase and other enzymes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Thratm4.1Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6NCrl * FVB/N

Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Adamts6b2b2744Clo/Adamts6b2b2744Clo
Genetic Background: C57BL/6J-Adamts6b2b2744Clo

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001958 emphysema "lung disease characterized by increased size of terminal bronchioles with destructive changes in their walls and reduction in number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33629]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001963 abnormal hearing "anomaly in the ability to receive auditory stimuli" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Senp1Gt(OST215108)Lex/Senp1Gt(OST215108)Lex
Genetic Background: B6;129S5-Senp1Gt(OST215108)Lex/Orl

 MP:0002133 abnormal respiratory system physiology "anomalous function of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2tm1Tew/Lrp2tm1Tew,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Senp1Gt(OST215108)Lex/Senp1Gt(OST215108)Lex
Genetic Background: B6;129S5-Senp1Gt(OST215108)Lex/Orl

 MP:0002196 acallosal "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002286 cryptorchism "failure of one or both of the testes to descend into the scrotum around the time of birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0002741 small olfactory bulb "reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [J:79871]
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Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0002781 increased circulating testosterone level "greater than the normal blood concentration of this most potent androgen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lrp2tm1Tew/Lrp2tm1Tew,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

 MP:0002904 increased circulating parathyroid hormone level "greater than expected blood concentration of this regulator of calcium and phosphorous concentration" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Lrp2m267Asp/Lrp2m267Asp
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0002998 abnormal bone remodeling "aberrant process of the turnover of bone matrix that involves a balance of resorbtion and formation by osteoclasts and osteoblasts, respectively" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003451 absent olfactory bulb "absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003509 increased circulating levels of dihydrotestosterone "greater than normal blood concentration of this potent androgenic metabolite of testosterone" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0003830 abnormal testis development "abnormal morphogenesis of the male reproductive gland containing the germ cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100020]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0003878 abnormal ear physiology "anomolous function of the ear, not due to an anatomical defect" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100987]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

 MP:0004056 abnormal myocardial compact layer morphology "malformation of the outer, dense layer of the myocardium " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004366 abnormal strial marginal cells "any structural abnormality in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

 MP:0004748 increased susceptibility to age-related hearing loss "greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004872 absent nasal septum "absence of the structure that separates the two nasal cavities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0004992 increased bone resorption "greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Lrp2tm3Tew/Lrp2tm3Tew
Genetic Background: Not Specified

Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0005274 abnormal viscerocranium morphology "anomalous structure or formation of the part of the skull that comprises the facial bones " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bmi1tm1Brn/Bmi1tm1Brn,E2f6tm1Lees/E2f6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Lrp2tm1Her/Lrp2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006357 abnormal circulating mineral level "anomalous concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Lrp2m267Asp/Lrp2m267Asp
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0009267 abnormal cerebellum fissure morphology "any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0009445 osteomalacia "gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0009708 vaginal septum "a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Vdrtm1Ska/Vdrtm1Ska
Genetic Background: NOD.Cg-Vdrtm1Ska/CmatJ

 MP:0010107 abnormal renal reabsorption "any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorption begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cubntm1Rkoz/Cubntm1Rkoz,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6

Allelic Composition: Cubntm1Rkoz/Cubntm1Rkoz,Lrp2tm1Tew/Lrp2tm1Tew,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahrb-1/Ahrb-1
Genetic Background: C57BL/6J

Allelic Composition: Lrp2tm1Tew/Lrp2tm1Tew,Tg(APOE-cre)VITew/0
Genetic Background: Not Specified

 MP:0010146 umbilical hernia "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", PMID:20333300]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0010466 vascular ring "the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches" [http://emedicine.medscape.com]
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Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Cubntm1Rkoz/Cubntm1Rkoz,Lrp2tm1Tew/Lrp2tm1Tew,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Lrp2tm3Tew/Lrp2tm3Tew
Genetic Background: Not Specified

 MP:0011228 abnormal vitamin D level "any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)" [GO:0042368]
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Allelic Composition: Lrp2tm1Tew/Lrp2tm1Tew,Tg(APOE-cre)VITew/0
Genetic Background: Not Specified

 MP:0011555 increased urine microglobulin level "greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine" [MGI:anna]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011603 decreased glutathione peroxidase activity "reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O" [GO:0004602]
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Allelic Composition: Lrp2m267Asp/Lrp2m267Asp
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ

 MP:0011661 persistent truncus arteriosus type i "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk" [http://emedicine.medscape.com]
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Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011770 increased urine selenium level "greater than normal amount of selenium in the urine" [MGI:anna]
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Allelic Composition: Lrp2m267Asp/Lrp2m267Asp
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Stk11tm2.1Tpm/Stk11tm2.1Tpm
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Lrp2tm1Her/Lrp2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0030046 round forehead "forehead appearance is more circular than usual as viewed from the front" [MGI:anna]
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Allelic Composition: Lrp227SH/Lrp227SH
Genetic Background: involves: A/J * C57BL/6N

 MP:0030047 flat forehead "abnormal flatness of the forehead" [MGI:anna]
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Allelic Composition: Lrp2tm1Her/Lrp2tm1Her
Genetic Background: involves: 129S7/SvEvBrd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026726 Cubn / Q9JLB4 / Cubilin / O60494*  / reaction
 ENSMUSG00000002985 Apoe / P08226 / Apolipoprotein E / P02649*  / reaction
 ENSMUSG00000035540 Gc / P21614 / Vitamin D-binding protein / P02774* / GC, vitamin D binding protein*  / reaction






 

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