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Gene: Lrp1b MGI:2151136

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Gene Summary

Name:
low density lipoprotein-related protein 1B
Synonyms:
9630004P12Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating unsaturated transferrin level Lrp1bem1(IMPC)Hmgu HET Early adult 3.49×10-05
preweaning lethality, incomplete penetrance Lrp1bem1(IMPC)Hmgu HOM   Early adult 0.00889
increased circulating iron level Lrp1bem1(IMPC)Hmgu HET Early adult 2.14×10-08
increased food intake Lrp1bem1(IMPC)Hmgu HET   Early adult 5.31×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp1b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lrp1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Polyphagia, Aggressive behavior ORPHA:329249
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Polyphagia OMIM:617885
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... ORPHA:399
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level ORPHA:276575
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level ORPHA:324575
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Increased C-peptide level ORPHA:276580
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal temper tantrums ORPHA:171829
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia OMIM:275000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hyperbilirubinemia OMIM:609734
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Temple Syndrome
Polyphagia ORPHA:254516
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:604250
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Cebalid Syndrome
Polyphagia OMIM:618774
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Secondary Short Bowel Syndrome
Low plasma citrulline, Polyphagia, Abnormal blood ion concentration ORPHA:95427
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Man1B1-Cdg
Polyphagia ORPHA:397941
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... ORPHA:72
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... OMIM:615234
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Insulinoma
Polyphagia ORPHA:97279
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures ORPHA:79444
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures ORPHA:79443
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... ORPHA:300298
Gangliocytoma
Polyphagia ORPHA:251937
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... ORPHA:96121
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... ORPHA:404448
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Compuls... ORPHA:293987
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder OMIM:176270
Weaver Syndrome
Polyphagia OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... OMIM:615873
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c OMIM:269700
Craniopharyngioma
Polyphagia ORPHA:54595
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polyphagia OMIM:608594
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
1P36 Deletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia ORPHA:1606
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder OMIM:607872
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia, Polyphagia ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lrp1b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lrp1b.

No publications found that use IMPC mice or data for Lrp1b.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lrp1btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrp1bem1(IMPC)Hmgu Exon Deletion Mice
Lrp1btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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