Gene Summary

Name:
lipopolysaccharide binding protein
Synonyms:
Bpifd2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

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 infections, Recurrent mycobacterial infections OMIM:614891
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections 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
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial 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 staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... 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
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency 61
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:300310
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Neutrophilia, Th... OMIM:226990
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin... OMIM:605258
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... ORPHA:158061
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia, Pneumonia OMIM:266265
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recur... OMIM:613501
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:616873
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H... ORPHA:540
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... OMIM:614868
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... ORPHA:3243
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... ORPHA:178320
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections OMIM:613502
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin... ORPHA:70578
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:612692
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid dermatitis, Gran... OMIM:618935
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent viral infections, Recurrent upper and lower respiratory tract... ORPHA:275
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete... OMIM:271500
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
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, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... OMIM:613470
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent fungal infections, Recurrent bacterial infections, Helicobacter p... ORPHA:2688
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Meningiti... OMIM:240500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei OMIM:260570
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... OMIM:609812
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin inf... ORPHA:276
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent... OMIM:607594
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:233710
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Molluscum contagiosum, Disseminated molluscum contagiosum, Severe... OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent candida infections, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous c... ORPHA:572
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:233690
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin infections,... ORPHA:911
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:606176
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... ORPHA:169090
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Recurrent bacterial skin infections, Leukopenia, Impaire... OMIM:214500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic mucocutaneous candidiasis, Invasive fungal infection, Severe vira... ORPHA:98813
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... OMIM:116920
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Ch├ędiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Candida esophagitis, Recurrent bacterial infections OMIM:620632
Specific Granule Deficiency 2
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Spherocytosis ORPHA:66518
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Recurrent urinary tract infections, Meningitis, Recurrent enter... OMIM:307200
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infection, Recurrent s... ORPHA:331235
Immunodeficiency 67
Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infections OMIM:607676
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:306400
Immunodeficiency 10
Sepsis, Recurrent otitis media, Recurrent infections, Recurrent urinary tract infections, Recurre... OMIM:612783
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent tonsillit... ORPHA:183675
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent pneumoni... OMIM:601495
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Leukocyt... ORPHA:98850
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... ORPHA:486
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Glycosuria... ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Rec... OMIM:616005
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:615506
Immunodeficiency 12
Recurrent viral infections, Recurrent lower respiratory tract infections, Recurrent bacterial inf... OMIM:615468
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections OMIM:618048
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Severe varicella zoster infection, Recurrent viral infections, Recurren... OMIM:606367
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tra... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent upper and lower respiratory tract infections, Recurrent ent... ORPHA:331206
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Recurrent viral... OMIM:613179
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... 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
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi... OMIM:615816
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, S... ORPHA:69663
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Pgm3-Cdg
Sepsis, Recurrent infections, Recurrent viral infections, Recurrent pneumonia, Recurrent respirat... ORPHA:443811
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumoni... OMIM:608233
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections, Recurren... OMIM:620565
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Ab... 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 viral infections, Recurrent pneumonia, Recurrent fun... OMIM:102700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in... OMIM:612541
Chromomycosis
Recurrent bacterial infections ORPHA:182
Postinfectious Vasculitis
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... ORPHA:48435
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat... ORPHA:3132
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Whim Syndrome
Sepsis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Meningitis, Recurrent ... ORPHA:51636
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Vici Syndrome
Chronic mucocutaneous candidiasis, Recurrent viral infections, Recurrent respiratory infections, ... OMIM:242840
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586
Immunodeficiency 87 And Autoimmunity
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Rec... OMIM:619573
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Immunodeficiency 47
Recurrent infections, Recurrent bacterial infections OMIM:300972
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous candi... OMIM:147060
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
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Pmm2-Cdg
Reduced thyroxin-binding globulin, Aspiration pneumonia, Pericarditis, Hypoalbuminemia, Impaired ... 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.

Order Mouse and ES Cells

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

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