Gene Summary

Name:
cysteinyl leukotriene receptor 2
Synonyms:
CYSLT2R,  Cyslt2,  CysLT2,  2300001H05Rik

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
abnormal heart morphology Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
small liver Cysltr2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cysltr2 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 Cysltr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uveal Melanoma
Inflammatory abnormality of the eye ORPHA:39044

The table below shows human diseases predicted to be associated to Cysltr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Lichen Amyloidosis
Pruritus ORPHA:49804
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Pulmonary Hemosiderosis
Hemoptysis, Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Pulmonary Fibrosis, Idiopathic
Pulmonary fibrosis, Alveolar cell carcinoma, Increased circulating antibody level, Elevated bronc... OMIM:178500
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Ethanolaminosis
Cardiomegaly OMIM:227150
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Chronic Beryllium Disease
Ground-glass opacification, Pulmonary fibrosis, Reticulonodular pattern on pulmonary HRCT, Abnorm... ORPHA:133
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Uveitis, Abnormal pulmonary inte... OMIM:612387
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash OMIM:216950
Immunodeficiency 60
Bronchiectasis, Pulmonary infiltrates, Decreased circulating IgE, Pulmonary fibrosis, Ulcerative ... OMIM:618394
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Pruritis on hand, Discoid lupus rash, Rheumatoid factor ... ORPHA:90280
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Ground-glass opacification, Type II pneumocyte hyperplasia, Intraalveol... OMIM:610913
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Aspergillosis
Ground-glass opacification, Abnormal sputum, Increased circulating IgE level, Pleuritis, Bronchie... ORPHA:1163
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Pulmonary fibrosis OMIM:615704
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:586
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT ORPHA:60026
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Interlobular septal thickening, Bronchiectas... ORPHA:79126
Scedosporiosis
Arthralgia/arthritis, Pericarditis, Endocarditis, Pleuritis, Pulmonary fibrosis, Pneumonia, Septi... ORPHA:449280
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Decreased ... OMIM:613101
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Alopecia Areata 1
Autoimmunity OMIM:104000
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages i... OMIM:616414
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Linear Iga Dermatosis
Autoimmunity, Pruritus ORPHA:46488
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Bro... OMIM:618986
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Felty Syndrome
Pleuritis, Pericarditis, Pulmonary fibrosis, Chronic otitis media, Synovitis, Sinusitis, Episcler... ORPHA:47612
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis OMIM:614742
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Nephroti... OMIM:617713
Antisynthetase Syndrome
Skin rash, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Keratoconjunctivitis s... ORPHA:81
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Pulmonary fibrosis, Lymphadenitis, Pleural effusion, Impaired oxidative burst, Ulcerative colitis... OMIM:618935
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis ORPHA:48377
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s... OMIM:615518
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Tracheoesophageal fistula, Pulmonary fibrosis ORPHA:1839
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Pulmonary fibrosis, Parenchymal consolidation, Elevated bronchoalveol... OMIM:610978
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Pulmonary fibrosis, Abnormal pulmonary interstitial morpholog... ORPHA:809
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Pulmonary fibrosis, Malar rash, Increased circulating IgG level, Pustular ras... OMIM:615934
Eosinophilopenia
Autoimmunity OMIM:131430
Acquired Ichthyosis
Autoimmunity, Pruritus, Recurrent skin infections ORPHA:454
Braddock Syndrome
Laryngeal web, Pulmonary fibrosis ORPHA:52047
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dila... OMIM:600649
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Depressed nasal bridge, Bronchi... OMIM:617241
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, He... ORPHA:90060
Chitayat Syndrome
Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia, Anteverted nares, Rec... OMIM:617180
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... OMIM:265450
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity ORPHA:411593
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine... OMIM:212140
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity OMIM:615387
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis ORPHA:457240
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Pulmonary fibrosis, Stomatitis, Osteomyelitis OMIM:612852
Hermansky-Pudlak Syndrome 4
Pulmonary fibrosis OMIM:614073
Polymyositis
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pericarditis, Arthritis ORPHA:732
Bullous Pemphigoid
Autoimmunity, Eczema, Psoriasiform dermatitis ORPHA:703
Riddle Syndrome
Chronic sinusitis, Pulmonary fibrosis, Recurrent sinusitis, Bronchitis, Pneumonia, Abnormal pulmo... ORPHA:420741
Immunodeficiency 31C
Autoimmune hemolytic anemia, Eczema, Chronic mucocutaneous candidiasis, Autoimmunity OMIM:614162
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity OMIM:178610
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Renal tubular acidosis, Hepatomegaly, Cardiomegaly OMIM:255120
Acute Lung Injury
Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemor... ORPHA:178320
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomyopathy, Cardiomegaly, Nephropathy ORPHA:85447
Scleroderma
Myelitis, Pericarditis, Pulmonary fibrosis, Uveitis, Abnormal pulmonary interstitial morphology, ... ORPHA:801
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... OMIM:263000
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Elevated hepatic transaminase ORPHA:858
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Pulmonary fibrosis, Abnormal pleura m... ORPHA:29207
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Pulmonary fibrosis, Colitis OMIM:203300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:619064
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Cardiomegaly, Nephrotic syndrome OMIM:269920
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Pulmonary fibrosis, Arthritis ORPHA:220393
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Dica... OMIM:201475
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, S... OMIM:235200
Thymoma
Skin rash, Pericarditis, Thyroiditis, Decreased circulating antibody level, Abnormal pleura morph... ORPHA:99867
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Iridocyclitis, Bronchiecta... OMIM:181000
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Cardiomegaly, Sp... OMIM:252920
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Pulmonary fibrosis, Panhypogammaglobulinemia, Chronic mucocutaneous candidi... ORPHA:79124
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Cardiomegaly, Splenomegaly, Incre... OMIM:256550
Immunoglobulin A Deficiency 1
Autoimmunity OMIM:137100
Fusariosis
Peritonitis, Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bron... ORPHA:228119
Dermatitis Herpetiformis
Autoimmunity, Pruritus, Eczema ORPHA:1656
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Pulmonary fibrosis, Periodontitis, Recurrent otitis media, Wide nasal b... OMIM:608233
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Systemic lupus erythematosus, Antinuclear antibody positivity OMIM:609939
Rajab Interstitial Lung Disease With Brain Calcifications 2
Abnormal pulmonary interstitial morphology, Hypertriglyceridemia OMIM:619013
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Pleuritis, Pericarditis, Increased inflammatory response, Pulmonary fibro... ORPHA:900
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Systemic lupus erythematosus, Autoimmunity ORPHA:90036
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity ORPHA:228312
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Skin rash, Myositis, Myocarditis ORPHA:206569
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Dyskeratosis Congenita, Autosomal Dominant 2
Pulmonary fibrosis OMIM:613989
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Typhoid
Abnormal pulmonary interstitial morphology, Skin rash, Encephalitis ORPHA:99745
Erdheim-Chester Disease
Skin rash, Xanthelasma, Pulmonary fibrosis, Pleural effusion, Abnormal pulmonary interstitial mor... ORPHA:35687
Sickle Cell Anemia
Hematuria, Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Pulmonary... ORPHA:3261
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Systemic Sclerosis
Pericarditis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Glomerulonephritis,... ORPHA:90291
Dyskeratosis Congenita, Autosomal Dominant 1
Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonary fibrosis,... ORPHA:209905
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Inflammatory abnormality of the skin ORPHA:277
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Bronchiectasis, ... ORPHA:244
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Misalignment of the pulmonar... OMIM:265120
Juvenile Dermatomyositis
Skin rash, Pericarditis, Pulmonary fibrosis, Myositis, Arthritis ORPHA:93672
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic st... OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity ORPHA:163703
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Abnormal myocardium morphology, Cystic renal dysplasia, Renal tubular epithelial... ORPHA:228308
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity OMIM:617006
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Pemphigus Erythematosus
Pruritus, Crusting erythematous dermatitis ORPHA:79480
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Pulmonary fibrosis, Erythroderma, Pleural effusion, Colitis... ORPHA:3260
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Dermatomyositis
Pericarditis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Myocarditis, Diffus... ORPHA:221
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Chronic oral candidiasis, Decreased specific anti-polysaccharide... OMIM:606367
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Pemphigus Vulgaris
Autoimmunity, Recurrent cutaneous abscess formation ORPHA:704
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Increased circulating cortisol level, Pneumonia, Hemo... ORPHA:97287
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis OMIM:224230
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmonary edema ORPHA:330001
Fucosidosis
Mucopolysacchariduria, Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Dyskeratosis Congenita, Autosomal Dominant 3
Pulmonary fibrosis OMIM:613990
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid art... ORPHA:275
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Juvenile rheumatoid arthritis ORPHA:85414
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria OMIM:619259
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Q Fever
Endocarditis, Pericarditis, Cholecystitis, Increased circulating antibody level, Pleural effusion... ORPHA:781
Type 1 Diabetes Mellitus
Autoimmunity OMIM:222100
Gaucher Disease
Pulmonary fibrosis, Increased circulating antibody level, Abnormal pulmonary interstitial morphol... ORPHA:355
Sarcoidosis
Abnormal lung morphology, Bronchiectasis, Pulmonary fibrosis, Abnormal pleura morphology, Emphyse... ORPHA:797
Hermansky-Pudlak Syndrome
Pulmonary fibrosis ORPHA:79430
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Unclassified Myelodysplastic Syndrome
Autoimmunity ORPHA:98827
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema OMIM:617780
Primary Sjögren Syndrome
Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Decreased circulating antibody level... ORPHA:289390
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Decreased circulating antibody level, Rheumatoid arthritis, Chronic atrophic gastr... ORPHA:227990
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Oligosacchariduria, Hepatomegaly, Ca... ORPHA:308552
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity OMIM:243150
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid art... ORPHA:100026
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Decreased circulating antibody level, Rheumatoid arthritis, Hashimoto thyroiditis,... ORPHA:227982
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Immunodeficiency 22
Autoimmunity OMIM:615758
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Bacterial endocarditis, Pulmonary fibrosis ORPHA:2072
Sandhoff Disease
Urinary incontinence, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:268800
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617050
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Pulmonary infiltrates OMIM:230800
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation OMIM:615486
Fucosidosis
Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly OMIM:230000
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Pancreatic hyperplasia, Vesi... OMIM:130650
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Hepatomegaly, Displacement of the papillary muscles, Righ... ORPHA:1329
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Pancreatic hypo... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Osteoarthritis ORPHA:77259
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Anterior uveitis, Myocarditis, Osteomye... ORPHA:1304
Dyskeratosis Congenita, X-Linked
Conjunctivitis, Blepharitis, Pulmonary fibrosis OMIM:305000
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pulmonary inter... ORPHA:85443
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmunity ORPHA:90033
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly OMIM:608013
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis OMIM:618278
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Inflammation of the large intestine, Increased circulat... ORPHA:2442
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Antineutrophil antibody positivity, Autoimmunity, Ne... ORPHA:228426
Kawasaki Disease
Skin rash, Pericarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Conjunctivitis, H... ORPHA:2331
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Spondyloenchondrodysplasia
Skin rash, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune he... ORPHA:1855
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Rheumatoid arthritis, Antinuclear antibody positivity ORPHA:85410
Secondary Intestinal Lymphangiectasia
Autoimmunity, Recurrent skin infections ORPHA:90363
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmune thrombocytopenia, Anti-liver cytosolic an... ORPHA:37042
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia ORPHA:760
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Recurrent respi... ORPHA:77261
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Psoriasis-Related Juvenile Idiopathic Arthritis
Skin rash, Pruritus, Autoimmunity, Malar rash, Psoriasiform dermatitis, Antinuclear antibody posi... ORPHA:85436
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy OMIM:252500
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Card... ORPHA:14
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema OMIM:613658
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Mucopolysacchariduria, Abnormal aortic valve morphology, Hepara... ORPHA:581
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cardiomegaly, Ventricular septal defect ORPHA:137675
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Autoimmune Pulmonary Alveolar Proteinosis
Hemoptysis, Intraalveolar phospholipid accumulation, Abnormality of the upper respiratory tract, ... ORPHA:747
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Annular panc... ORPHA:97297
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatosplenomegaly, Pancreatic islet-cell hype... OMIM:215140
Farber Disease
Recurrent upper respiratory tract infections, Abnormal larynx morphology, Nodular pattern on pulm... ORPHA:333
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Pleural effusion, Abnormal pulmonary interstitial morphology, Malar rash, Myo... ORPHA:50918
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Oligosacchariduria, Hepatomegaly, Ca... ORPHA:365
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Prolonged neonatal jaundice, Cardiomegaly, Hepatosplenomegaly, Mic... ORPHA:51
Niemann-Pick Disease Type B
Abnormal pulmonary interstitial morphology, Hypertriglyceridemia, Hyperlipidemia ORPHA:77293
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Chronic Graft Versus Host Disease
Bronchiectasis, Urinary bladder inflammation, Pleural effusion, Keratoconjunctivitis sicca, Bronc... ORPHA:99921
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Pulmonary ... OMIM:233450
Williams Syndrome
Abnormal endocardium morphology, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Pelvic kidn... ORPHA:904
Cryptococcosis
Peritonitis, Prostatitis, Pleural effusion, Pneumonia, Nodular pattern on pulmonary HRCT, Osteomy... ORPHA:1546
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Prominent nose OMIM:614748
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Aarskog Syndrome, Autosomal Dominant
Abnormal pulmonary interstitial morphology, Anteverted nares, Wide nasal bridge OMIM:100050
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Pericardial effusion, Myocardial calcification, Hepat... ORPHA:51608
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Periodontitis, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern ... OMIM:130050
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:256040
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Cardiomegaly, Hypospa... ORPHA:3472
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Subv... OMIM:182250
Uveal Melanoma
Inflammatory abnormality of the eye ORPHA:39044

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 Cysltr2

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 Cysltr2.

No publications found that use IMPC mice or data for Cysltr2.

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MGI Allele Allele Type Produced
Cysltr2tm374921(L1L2_Bact_P) Targeting vectors
Cysltr2em1(IMPC)Mbp Exon Deletion Mice

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