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Gene: Cysltr2 MGI:1917336

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Gene Summary

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

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
abnormal caudal vertebrae morphology Cysltr2em1(IMPC)Mbp HOM   Early adult 1.19×10-06
abnormal liver morphology Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
small liver Cysltr2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Cysltr2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Lichen Amyloidosis
Pruritus ORPHA:49804
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Pulmonary fibrosis, Usual interstitial pneumonia OMIM:616373
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary fibrosis, R... ORPHA:2032
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
C1Q Deficiency 3
Discoid lupus rash, Antinuclear antibody positivity OMIM:620322
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc... OMIM:178500
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Ethanolaminosis
Cardiomegaly OMIM:227150
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial morpholo... OMIM:612387
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity OMIM:216950
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot... OMIM:618394
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... OMIM:610921
Chronic Beryllium Disease
Pulmonary fibrosis, Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonod... ORPHA:133
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... OMIM:619611
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... OMIM:611926
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... OMIM:610913
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Abnormal pulmonary interstiti... OMIM:613101
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating total IgM, Decrea... OMIM:619510
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Endocarditis... ORPHA:449280
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT ORPHA:60026
Alopecia Areata 1
Autoimmunity OMIM:104000
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Arthritis, Hemosiderin... OMIM:616414
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Pulmonary fibrosis OMIM:615704
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Usual interstitial pneumonia OMIM:614742
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, R... ORPHA:47612
Linear Iga Dermatosis
Pruritus, Autoimmunity ORPHA:46488
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Increased circulati... ORPHA:1163
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hypertriglyceridemia, Abnormal pulmonary interstitial morphology OMIM:607616
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pulmonary fib... ORPHA:99931
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Ulcerative coli... OMIM:618935
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... ORPHA:81
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Subcorneal Pustular Dermatosis
Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:48377
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Pulmonary fibrosis, Abnormal pleura morphology ORPHA:210136
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia ORPHA:444463
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pulmonary fibrosis, Decreased circulating antibody level OMIM:619767
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Abnormal pulmonary interstitial morpho... ORPHA:809
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Pustule, ... OMIM:615934
Eosinophilopenia
Autoimmunity OMIM:131430
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Respiratory tract infection, Bronchiectasis, Keratoc... ORPHA:79128
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Bronchiolitis ... OMIM:615518
Acquired Ichthyosis
Pruritus, Recurrent skin infections, Autoimmunity ORPHA:454
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar... OMIM:252920
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Bone Marrow Failure Syndrome 5
Pulmonary fibrosis, Decreased circulating antibody level OMIM:618165
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis ORPHA:457240
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Bronchiolitis obliterans, Increased circulating IgM leve... OMIM:617241
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Autoimmunity, Systemic lupus erythematosus ORPHA:411593
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Braddock Syndrome
Pulmonary fibrosis ORPHA:52047
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis OMIM:612852
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... ORPHA:79127
Polymyositis
Arthritis, Pericarditis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:732
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Decreased... ORPHA:420741
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Left atrial enlargement, Elevated circula... OMIM:300280
Pilomatrixoma
Pruritus, Anti-myeloperoxidase antibody positivity ORPHA:91414
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Cardiomegaly OMIM:300886
Hermansky-Pudlak Syndrome 4
Pulmonary fibrosis OMIM:614073
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pulmonary interstitia... ORPHA:217563
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Enthesitis, Arthritis, Inflamma... ORPHA:29207
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly ORPHA:858
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis ORPHA:90060
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu... OMIM:263000
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly OMIM:269920
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia ORPHA:1303
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Immunoglobulin A Deficiency 1
Autoimmunity OMIM:137100
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumonia, Abnormal ... OMIM:619644
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... OMIM:201475
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Pulmonary fibrosis, Panhypog... ORPHA:79124
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Ante... ORPHA:349
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Pulmonary fibrosis ORPHA:220393
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... OMIM:235200
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Pulmonary fibrosis OMIM:203300
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology OMIM:619013
Acute Lung Injury
Acute pancreatitis, Abnormal pulmonary interstitial morphology, Pneumonia, Diffuse alveolar hemor... ORPHA:178320
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Xanthelasma, Pulmonary fibr... ORPHA:35687
Dermatitis Herpetiformis
Pruritus, Autoimmunity, Eczema ORPHA:1656
Typhoid
Skin rash, Infectious encephalitis, Abnormal pulmonary interstitial morphology ORPHA:99745
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Pericardial effusion, Cardiomegaly, Cu... OMIM:239850
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Abnormal pulmonary inte... OMIM:181000
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology ORPHA:206569
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Abnormal... ORPHA:90291
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Recurrent pneumonia, Periodontitis, Pulmonary fibrosis, Chr... OMIM:608233
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectasis, Subple... ORPHA:60025
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent intrapulmonary hem... ORPHA:900
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Scoliosis, Cardiomegaly ORPHA:3137
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hypertriglyceridemia, Recurrent skin infections, Eczema, Bron... OMIM:619802
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Recurrent pneumonia, Pulmonary fibrosis, Abnormal pulmonary int... ORPHA:209905
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Chitayat Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617180
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... OMIM:615952
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Pulmonary fi... OMIM:615486
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Arthritis, Pulmonary fibrosis ORPHA:93672
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Attrv122I Amyloidosis
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... ORPHA:85451
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... OMIM:603903
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Le... OMIM:617713
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis OMIM:224230
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Dyskeratosis Congenita, Autosomal Dominant 2
Pulmonary fibrosis OMIM:613989
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE level, Atopic dermatitis, Pl... ORPHA:2902
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Dyskeratosis Congenita, Autosomal Dominant 3
Pulmonary fibrosis OMIM:613990
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Short neck, Micropenis, Platyspondyly, Hype... OMIM:616897
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczema, Cholangitis, Chronic hepatitis, Arthritis, Colitis,... ORPHA:3260
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... OMIM:265120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated ... OMIM:608836
Wild Type Attr Amyloidosis
Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary edema ORPHA:330001
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp... ORPHA:221
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Niemann-Pick Disease, Type C2
Pulmonary fibrosis OMIM:607625
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Hashimoto thyro... ORPHA:275
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Increased circulating IgE leve... OMIM:606367
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... ORPHA:465508
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Decreased circulating IgG level, Pulmonary fibrosis OMIM:618278
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Hyp... ORPHA:228119
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Pulmonary fibrosis OMIM:612199
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... ORPHA:781
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity ORPHA:85414
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Abnormal pulmonary interstitial morphology, Pneumonia ORPHA:97287
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Dysplastic sacrum, Severe platyspondyly, Cardiomegaly OMIM:613320
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Cuboid-shaped ... ORPHA:1517
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology, Recurrent otitis media, ... OMIM:620233
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Erythema nodosum, Abnormal lung morphology, ... ORPHA:797
Gaucher Disease
Osteomyelitis, Osteoarthritis, Hepatitis, Abnormal pulmonary interstitial morphology, Increased c... ORPHA:355
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Hermansky-Pudlak Syndrome
Pulmonary fibrosis ORPHA:79430
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Palmar pruritus ORPHA:69665
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly OMIM:268800
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Decreased circul... ORPHA:227990
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... ORPHA:308552
Overlap Myositis
Arthritis, Abnormal pulmonary interstitial morphology, Rheumatoid arthritis ORPHA:206572
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Hyperlordosis, Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly ORPHA:391428
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Decreased circul... ORPHA:227982
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Bronc... ORPHA:289390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Bacterial endocarditis ORPHA:2072
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ve... ORPHA:79330
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Gaucher Disease Type 1
Osteoarthritis, Increased circulating antibody level, Abnormal pulmonary interstitial morphology ORPHA:77259
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617050
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Recurrent pharyngitis, Hepatitis, Cheilitis, Abnormal pulmo... ORPHA:2331
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, He... OMIM:602782
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Splenomegaly, H... OMIM:252500
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology OMIM:230800
Al Amyloidosis
Increased circulating antibody level, Abnormal pulmonary interstitial morphology, Pulmonary inter... ORPHA:85443
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Brucellosis
Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epidid... ORPHA:1304
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Dyskeratosis Congenita, X-Linked
Conjunctivitis, Pulmonary fibrosis, Blepharitis OMIM:305000
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly OMIM:617022
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure OMIM:608013
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Scoliosis, Cardiomegaly OMIM:618143
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Abnormal form of th... ORPHA:581
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... OMIM:619991
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Hepatic fibrosis, Cirr... ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Hyperlordosis, Elevated circulating alanine aminotransferase concentr... ORPHA:365
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Gaucher Disease Type 3
Recurrent respiratory infections, Increased circulating antibody level, Abnormal pulmonary inters... ORPHA:77261
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Antinuclear antibody positivity, Mala... ORPHA:85436
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... ORPHA:116
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Pleural effusion, Ma... ORPHA:50918
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithiasis, Annular panc... ORPHA:97297
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cardiomegaly, Hepatosplenomegaly, Micropenis, Scoliosis, Prolonged... ORPHA:51
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, ... ORPHA:904
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology OMIM:613658
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Hypertriglyceridemia, Abnormal pulmonary interstitial morphology ORPHA:77293
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... ORPHA:51608
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Cryptococcosis
Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Peritonitis, Pleural effusion, Prost... ORPHA:1546
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Pneumothorax, Bronchiectasis, Bronchiolitis obliterans, ... ORPHA:99921
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:614748
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoal... OMIM:233450
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cysltr2em1(IMPC)Mbp Exon Deletion Mice
Cysltr2tm374921(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cysltr2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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