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Gene: Lbp MGI:1098776

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Gene Summary

Name:
lipopolysaccharide binding protein
Synonyms:
Bpifd2

Order Alleles

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
increased circulating fructosamine level Lbptm1b(EUCOMM)Hmgu HOM Early adult 1.28×10-05
increased fasting circulating glucose level Lbptm1b(EUCOMM)Hmgu HOM Early adult 2.34×10-05
increased spleen weight Lbptm1b(EUCOMM)Hmgu HOM Early adult 1.13×10-08

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 3)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 66.67% (2 of 3)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 3)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Echo

M-Mode Images

32 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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Human diseases caused by Lbp 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 Lbp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 53
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media OMIM:617585
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis OMIM:613494
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... ORPHA:319552
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections OMIM:619437
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... OMIM:226990
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... OMIM:605258
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent sinusitis, Recurrent ... OMIM:613493
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent lower respiratory tract infection... OMIM:613501
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia OMIM:266265
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Recurrent bact... OMIM:300310
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Maculopapular exanthema, Infectious encephalitis, Increased circulating interleukin 6 con... ORPHA:540
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Oligoarthritis, Chronic lymphatic leukemia, Incr... ORPHA:3243
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:613502
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Recurrent viral infections... OMIM:209920
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media OMIM:612692
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:70578
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Eczema, Lymphopeni... OMIM:618935
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Sp... OMIM:271500
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Impaired neutrophil bactericidal activity, Nonsphero... OMIM:613470
Indolent Systemic Mastocytosis
Skin rash, Mastocytosis, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Abnor... ORPHA:98848
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated hepatic transaminase OMIM:143500
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Thymic Aplasia
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... ORPHA:83471
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Disseminated molluscum contagiosum, Recurrent sinusitis, Recurrent otitis media, Recurrent sinopu... OMIM:243700
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei OMIM:260570
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Hepatic steatosis,... OMIM:301045
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:618858
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... ORPHA:2688
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:607594
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... OMIM:610984
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabete... OMIM:609812
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c OMIM:610582
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233690
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent herpes, Chronic mucocutaneous candidiasis, ... ORPHA:572
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahep... OMIM:147480
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Chediak-Higashi Syndrome
Leukopenia, Anemia, Recurrent bacterial skin infections, Periodontitis, Giant neutrophil granules... OMIM:214500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly... OMIM:616860
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... ORPHA:169090
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:606176
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Anemia, Neutropenia, Periodontitis, Skin rash, Abnormal plat... ORPHA:167
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Recurrent urinary tract infections, Pyoderma, Recurrent oti... OMIM:307200
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Spherocytosis ORPHA:66518
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis OMIM:617475
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... ORPHA:85436
Agammaglobulinemia 1, Autosomal Recessive
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections,... OMIM:601495
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recur... ORPHA:183675
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... ORPHA:331235
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Granuloma, Disc... OMIM:306400
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... ORPHA:2968
Aggressive Systemic Mastocytosis
Anemia, Maculopapular exanthema, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased propo... ORPHA:98850
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... OMIM:600803
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... ORPHA:486
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... ORPHA:2442
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... OMIM:616005
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... OMIM:619484
Immunodeficiency 21
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... OMIM:614172
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Biliary Atresia, Extrahepatic
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... OMIM:210500
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circ... OMIM:235555
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Recurrent bacterial infec... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Chronic oral candidiasis, Recurrent bacterial infections, Recu... OMIM:606367
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c... OMIM:214950
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... ORPHA:331206
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Recurrent bacterial infections, Meningitis, P... OMIM:308230
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Severe cytomegalovirus infection, Molluscum contagiosum OMIM:300291
Omenn Syndrome
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:603554
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Eczema, Bone marrow hypoc... ORPHA:811
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... OMIM:615816
Elliptocytosis 1
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Pgm3-Cdg
Recurrent fungal infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent infec... ORPHA:443811
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infect... OMIM:608233
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Hyperinsulinemia, Enlarged polycystic ovaries, Hyperglycemia, Fast... ORPHA:2298
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... OMIM:615710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent... OMIM:102700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... OMIM:612541
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Chromomycosis
Recurrent bacterial infections ORPHA:182
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... ORPHA:48435
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating antibody level... ORPHA:3132
Whim Syndrome
Recurrent pneumonia, Recurrent bacterial infections, Recurrent upper respiratory tract infections... ORPHA:51636
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Vici Syndrome
Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Recurrent viral infections, Re... OMIM:242840
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Mastocytosis
Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Immunodeficiency 87 And Autoimmunity
Persistent EBV viremia, Sepsis, Recurrent bacterial infections, Recurrent viral infections, Sever... OMIM:619573
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Cystic Fibrosis
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... ORPHA:586
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections ORPHA:171
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Pmm2-Cdg
Aspiration pneumonia, Impaired neutrophil chemotaxis, Pericarditis, Reduced thyroxin-binding glob... ORPHA:79318

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 Lbp

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 Lbp.

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

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MGI Allele Allele Type Produced
Lbptm29288(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lbptm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Lbptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lbptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lbptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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