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Gene: Il31ra MGI:2180511

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Gene Summary

Name:
interleukin 31 receptor A
Synonyms:
GLM-R,  GPL

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
decreased lean body mass Il31ratm1b(EUCOMM)Hmgu HOM Early adult 6.39×10-07
increased total body fat amount Il31ratm1b(EUCOMM)Hmgu HOM Early adult 5.13×10-06
decreased bone mineral content Il31ratm1b(EUCOMM)Hmgu HOM Early adult 5.21×10-07

Download data as:  TSV  XLS

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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)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 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)
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)
Oral epithelium 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)
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)
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 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Not available
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Echo

M-Mode Images

32 Images

View images
Adult LacZ

LacZ Images Wholemount

7 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Il31ra 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.

The table below shows human diseases associated to Il31ra by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyloidosis, Primary Localized Cutaneous, 2
OMIM:613955

The table below shows human diseases predicted to be associated to Il31ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent upper respirator... OMIM:618944
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Increased alpha-globulin OMIM:235900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:615615
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Decreased circulating IgG l... OMIM:615767
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency 25
Recurrent herpes, Increased circulating IgM level, Increased circulating IgE level, Increased cir... OMIM:610163
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... ORPHA:277
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Recurren... ORPHA:217390
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Recurrent infections, Eczema, Increased circulating IgE level OMIM:618985
Severe Combined Immunodeficiency, X-Linked
Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating IgE, Pneu... OMIM:300400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Recurrent infections, Agammaglobulinemia OMIM:616911
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections, Recurrent infections, Recurrent ... OMIM:617744
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus... OMIM:147060
Immunodeficiency 50
Decreased circulating antibody level, Recurrent urinary tract infections, Recurrent respiratory i... OMIM:300988
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Recurrent infections, Agammaglobulinemia OMIM:616941
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recur... OMIM:618523
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... OMIM:617241
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Recurrent otitis media, Recurrent urinary tract infections,... OMIM:618495
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sino... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Recurrent upper respiratory tract infections, Increased circulat... ORPHA:169154
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bac... OMIM:613502
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurrent candida infections OMIM:269840
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Bronchiectasis, Recurrent otitis media, Recurrent oral herpes, P... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc... OMIM:308230
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Ulcerative colitis, Recurrent sinopulmonary infections... OMIM:618394
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:606367
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infections, Recurrent respiratory infections, Recurren... OMIM:137100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Immunodeficiency 66
Pustule, Defective T cell proliferation, Meningitis, Sepsis, Recurrent skin infections OMIM:618847
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Wiskott-Aldrich Syndrome 2
Eczema, Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Increased circulating IgE level, Blepharitis OMIM:614328
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Sinusitis, Decreased circulating IgG level, Otitis media OMIM:312863
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Recurrent infections, Decreased... OMIM:256500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Persistent EBV viremia, Decrea... OMIM:300853
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 37
Decreased circulating antibody level, Recurrent infections, Encephalitis, Colitis OMIM:616098
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Increased circulating antibody ... ORPHA:449400
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Allergic rhinitis, Recurrent st... OMIM:615816
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Recurrent sin... OMIM:609529
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Decreased... OMIM:616452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, R... ORPHA:634
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Increased circulating IgG level, Chronic sinusitis, Reduced an... ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Skin rash, Recurrent infections OMIM:618048
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinu... OMIM:607594
Myeloma, Multiple
Paraproteinemia OMIM:254500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Recurrent fungal infections, Decreased circulating IgG2 level, R... OMIM:102700
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Increased circulating IgA level,... OMIM:300291
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul... OMIM:618534
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:275
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Severe infection, Glomerulonephritis, Hepatitis, E... OMIM:304790
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr... OMIM:616576
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent fungal infections, Helicobacter pylori infection, Recu... ORPHA:2688
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Osteomyelitis, Increased circulating IgE level, Chronic otitis media, Recurrent infect... ORPHA:2314
Autoimmune Lymphoproliferative Syndrome, Type Iii
Persistent EBV viremia, Recurrent upper respiratory tract infections, Increased circulating antib... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Severe Epstein Barr virus infection, Decreased circulating antib... OMIM:308240
Aspergillosis
Osteomyelitis, Increased circulating IgE level, Bronchiectasis, Unusual CNS infection, Pneumonia,... ORPHA:1163
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobul... ORPHA:572
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Recurrent respirat... OMIM:618042
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumon... ORPHA:37042
Immunodeficiency 46
Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary infection... OMIM:616740
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function, Sepsis OMIM:267500
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Increased circulating ferritin concentra... OMIM:300635
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Wiskott-Aldrich Syndrome
Recurrent herpes, Inflammation of the large intestine, Increased circulating IgE level, Decreased... OMIM:301000
Thrombocytopenia 1
Eczema, Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Severe varicella zoster infectio... OMIM:618213
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Hypoalbuminemia, Decreased circulating IgG level, Recurrent resp... OMIM:241600
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Chilblain Lupus
Skin rash, Increased circulating antibody level, Discoid lupus rash, Malar rash, Inflammatory abn... ORPHA:90280
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent infections, Recurrent respiratory infections, Dec... OMIM:614470
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm... ORPHA:449395
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:616100
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Recurrent urinary tract infections, Pyoderma, Pneumonia, Septic arthri... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Skin rash, Pustule, Chronic oral candidiasis, Partial IgA def... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Tularemia
Skin rash, Cutaneous abscess, Increased circulating antibody level, Pneumonia, Meningitis, Conjun... ORPHA:3392
C3 Glomerulopathy
Decreased serum complement C4, Membranoproliferative glomerulonephritis, Paraproteinemia, Recurre... ORPHA:329918
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgE level, Increased circulating antibody level, Increased cir... ORPHA:449432
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Atopic dermatitis OMIM:615846
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Arthritis ORPHA:37748
Lead Poisoning
Skin rash, Tubulointerstitial nephritis, Increased circulating IgE level, Abnormality of humoral ... ORPHA:330015
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Increased circulating IgG level, Recurrent infections, Malar rash, Pustular r... OMIM:615934
Trichinellosis
Meningitis, Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Caffey Disease
Increased circulating antibody level ORPHA:1310
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Punctate keratitis, Increased circulating IgG level, Keratoconjunctivitis s... OMIM:617388
Igg4-Related Ophthalmic Disease
Prostatitis, Increased circulating IgE level, Thyroiditis, Orchitis, Increased circulating IgG4 l... ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Panniculitis, Conjunctivitis, Recurrent infectio... OMIM:617591
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Prolidase Deficiency
Increased circulating antibody level, Crusting erythematous dermatitis, Recurrent infections, Rec... OMIM:170100
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Viral hepatitis, Increased circulating anti... ORPHA:2137
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Molluscum contagiosum, Recurrent i... OMIM:260920
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Malar rash, Increased circulating IgG level, Decreased lymphocyt... OMIM:603909
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis OMIM:615415
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Panniculitis, Elevated circulating C-reactive protein... OMIM:617099
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Bronchiectasis, Pneumonia, Decreased circulating IgA level, Sinu... OMIM:242860
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Congenital Analbuminemia
Hypoproteinemia, Increased circulating antibody level, Hypoalbuminemia, Recurrent lower respirato... ORPHA:86816
Pearson Syndrome
Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodular cirrhosis, Ne... ORPHA:699
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Leishmaniasis
Increased circulating antibody level, Rhinitis, Hypoalbuminemia ORPHA:507
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Meningitis, Conjun... ORPHA:448237
Angiostrongyliasis
Increased circulating IgM level, Unusual CNS infection, Increased circulating specific IgE antibo... ORPHA:74
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Inflammation of the large intestine, Nephritis, Increas... ORPHA:2442
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Arthritis, Recurrent aphthous stomatitis, Increased circulating IgA level ORPHA:343
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgM level, Recurrent fungal infections, Onyc... ORPHA:186
Q Fever
Endocarditis, Pericarditis, Cryoglobulinemia, Increased circulating antibody level, Cholecystitis... ORPHA:781
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Increased circulating IgM level, Recurrent bronchopulmonary infections, Hypoalbuminemi... OMIM:617303
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Leukopenia, Thymoma, Aplasia/Hypoplasi... ORPHA:227990
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Mevalonic Aciduria
Skin rash, Recurrent infections, Elevated circulating C-reactive protein concentration, Elevated ... OMIM:610377
Cystic Echinococcosis
Invasive parasitic infection, Increased circulating antibody level, Unusual infection, Membranous... ORPHA:400
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Leukopenia, Thymoma, Aplasia/Hypoplasi... ORPHA:227982
Primary Sjögren Syndrome
Parotitis, Arteritis, Cryoglobulinemia, Chronic active hepatitis, Decreased circulating antibody ... ORPHA:289390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Coccidioidomycosis
Coccidioidal meningitis, Peritonitis, Skin rash, Increased circulating IgM level, Folliculitis, P... ORPHA:228123
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Increased serum interferon-gamma level, Recurrent upper respiratory tract infection... OMIM:256040
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Complement deficiency, Elevated circulating C-re... ORPHA:449427
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Asplenia OMIM:619123
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Recurrent gastroenteritis, Conjunctivitis, Hypoalbuminemia, Seps... ORPHA:505248
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Unusual CNS infection, Abnormality of serum cytokine l... ORPHA:297
Brucellosis
Epididymitis, Increased circulating IgM level, Endocarditis, Pericarditis, Arteritis, Hip osteoar... ORPHA:1304
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Microgastria-Limb Reduction Defects Association
Asplenia, Absent gallbladder, Splenogonadal fusion, Biliary tract abnormality OMIM:156810
Scleromyxedema
Elevated circulating creatine kinase concentration, Paraproteinemia ORPHA:167635
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Hyperproteinemia, Increase... ORPHA:29073
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Insulin-Resistance Syndrome Type B
Skin rash, Decreased serum complement factor B, Pneumonia, Increased circulating IgG level, Hypoa... ORPHA:2298
Gaucher Disease Type 1
Increased circulating antibody level, Osteoarthritis ORPHA:77259
Feingold Syndrome 1
Polysplenia, Asplenia, Accessory spleen, Annular pancreas OMIM:164280
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... OMIM:606002
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Cysticercosis
Increased circulating antibody level, Iridocyclitis, Encephalitis ORPHA:1560
Japanese Encephalitis
Meningitis, Increased circulating antibody level, Increased circulating IgM level, Encephalitis ORPHA:79139
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Abdominal situs inversus, Asplenia, Polysplenia OMIM:306955
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Intraalveolar phospholipid accumulation, Decreased ... ORPHA:470
Gaucher Disease Type 3
Increased circulating antibody level, Recurrent respiratory infections ORPHA:77261
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Alveolar Echinococcosis
Increased circulating antibody level, Cutaneous abscess, Cholangitis ORPHA:284
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Iridocyclitis, Bronchiecta... OMIM:181000
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Pancreatic fibrosis, Cystic liver disease, Asplenia, Congenit... ORPHA:564
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... OMIM:249000
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Scleritis, Increased circulating antibody level, Intermediate uveitis, Panuveitis, Inc... ORPHA:91500
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Ulcerative colitis, Uveitis, Hepatitis, Hypoalbuminemia... ORPHA:171
Gaucher Disease
Increased circulating antibody level, Hepatitis, Elevated circulating C-reactive protein concentr... ORPHA:355
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Pulmonary lymphangiectasia, Annular pancreas OMIM:265380
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia ORPHA:261552
Amyloidosis, Primary Localized Cutaneous, 2
OMIM:613955

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 Il31ra

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 Il31ra.

No publications found that use IMPC mice or data for Il31ra.

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MGI Allele Allele Type Produced
Il31ratm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il31ratm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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