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Gene: Il22ra1 MGI:2663588

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Gene Summary

Name:
interleukin 22 receptor, alpha 1
Synonyms:
Il22r

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 circulating total protein level Il22ra1tm1a(EUCOMM)Wtsi HOM Early adult 1.74×10-05
decreased circulating serum albumin level Il22ra1tm1a(EUCOMM)Wtsi HOM Early adult 2.44×10-06
increased circulating bilirubin level Il22ra1tm1a(EUCOMM)Wtsi HOM Early adult 5.40×10-05

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
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 Not available
Cerebral cortex N/A heterozygote Not available
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 Not available
Hypothalamus N/A heterozygote Not available
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 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 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 tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote Ambiguous
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 Not available
Testis N/A heterozygote 50% (1 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)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Il22ra1tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI

View all 75 images

Il22ra1tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Female, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Female, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Il22ra1tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI

Human diseases caused by Il22ra1 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 Il22ra1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Diarrhea 13
Hypoalbuminemia OMIM:620357
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Dengue Fever
Hypoproteinemia ORPHA:99828
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Omenn Syndrome
Hypoproteinemia OMIM:603554
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Leishmaniasis
Hypoalbuminemia ORPHA:507
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Pierson Syndrome
Hypoproteinemia OMIM:609049
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul... OMIM:614866
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Leptospirosis
Hyperproteinemia ORPHA:509
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Il22ra1

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 Il22ra1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Group 3 innate lymphocytes make a distinct contribution to type 17 immunity in bladder defence. iScience (June 2022) Il22ra1tm1a(EUCOMM)Wtsi PMC9283510
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Il22ra1tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6459510
Interleukin-22 protects intestinal stem cells against genotoxic stress. Nature (January 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6420091
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Il22ra1tm1a(EUCOMM)Wtsi Il22ra1tm1a(EUCOMM)Wtsi PMC5827107
IL-22 regulates lymphoid chemokine production and assembly of tertiary lymphoid organs. Proceedings of the National Academy of Sciences of the United States of America (August 2015) Il22ra1tm1a(EUCOMM)Wtsi PMC4568258
Epithelial IL-22RA1-mediated fucosylation promotes intestinal colonization resistance to an opportunistic pathogen. Cell host & microbe (September 2014) Il22ra1tm1a(EUCOMM)Wtsi PMC4190086
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Il22ra1tm1a(EUCOMM)Wtsi PMC3996542
HVEM signalling at mucosal barriers provides host defence against pathogenic bacteria. Nature (August 2012) Il22ra1tm1a(EUCOMM)Wtsi PMC3477500

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Il22ra1tm39175(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il22ra1tm39175(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il22ra1tm39175(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il22ra1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il22ra1tm39175(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il22ra1tm39175(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il22ra1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Il22ra1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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