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Gene: Rcan1 MGI:1890564

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Gene Summary

Name:
regulator of calcineurin 1
Synonyms:
CSP1,  MCIP1,  Dscr1,  ADAPT78,  2410048A02Rik

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
increased lean body mass Rcan1tm1b(KOMP)Wtsi HOM Early adult 1.75×10-05
decreased total body fat amount Rcan1tm1b(KOMP)Wtsi HOM Early adult 3.58×10-05

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Rcan1 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 Rcan1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media OMIM:615615
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Decreased circulating IgA level, Increased ... OMIM:608106
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... OMIM:606843
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased T cell activation, Eczema, Complete or near-complete a... OMIM:607271
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... OMIM:617765
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613500
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Chronic oral candidiasis, Reduced natural killer cell activity, ... OMIM:300400
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating IgA level, Agammaglob... OMIM:619707
Immunodeficiency 61
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recur... OMIM:612692
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity OMIM:614493
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent sinusitis, Recurrent o... OMIM:607594
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... OMIM:240500
Attrv30M Amyloidosis
Impotence, Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Pneumo... OMIM:617638
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:616636
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... OMIM:618969
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... OMIM:617744
Autoimmune Polyendocrinopathy Type 2
Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... ORPHA:3143
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... OMIM:618982
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... ORPHA:277
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... OMIM:619281
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:859
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... OMIM:617241
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Bronchiectasis, Increased circulating IgG level, Increased circulating Ig... OMIM:619220
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... OMIM:619774
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Decreas... OMIM:300853
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Hypoproteinemia, ... OMIM:241600
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... OMIM:301081
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... OMIM:619924
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect, Hypert... OMIM:620135
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Decreased c... OMIM:618394
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... OMIM:619824
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Decreased T cell activation, Hepatitis, Scler... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... ORPHA:169160
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Defective T cell proli... OMIM:618534
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Immunodeficiency 27A
Pneumonia, Increased circulating IgM level, Salmonella osteomyelitis, Increased inflammatory resp... OMIM:209950
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronchiectasi... OMIM:301082
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... OMIM:618282
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Bronchiectasis, Cutaneous abscess, Chronic mucocutaneous candidi... OMIM:619752
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... OMIM:614878
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71526
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... ORPHA:572
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:611926
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Ecze... OMIM:243700
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... OMIM:619510
Hemochromatosis, Type 1
Telangiectasia, Impotence, Azoospermia, Congestive heart failure, Testicular atrophy, Hepatomegal... OMIM:235200
Familial Atrial Myxoma
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... ORPHA:615
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Agammaglobulinemia, Decreased c... OMIM:619705
Immunodeficiency 92
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Decreased circulating IgA level,... OMIM:619652
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, Cutane... OMIM:209920
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia... OMIM:615577
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating total IgM, Chronic oral candidiasis, Lack of T cell function, Decreased lym... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... OMIM:600802
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... ORPHA:555874
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:601859
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism, Increased circ... OMIM:177735
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Increased circulating IgA l... OMIM:617388
Non-Functioning Pituitary Adenoma
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... ORPHA:91349
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Immunodeficiency 58
Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis, Decreased circulating... OMIM:618131
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic oral candidia... ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physiology, Incr... OMIM:613179
Immunodeficiency 22
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Pericarditi... OMIM:615758
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Weight loss, Elevated jugular venous pressure, Infertility, Congestive hea... ORPHA:465508
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... ORPHA:331206
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, P... OMIM:617872
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Pyoderma, Recurrent pneumonia, Reduced delayed hypersensitivity, Eczematoid derma... OMIM:242700
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Autoimmune Hepatitis
Increased total bilirubin, Fulminant hepatitis, Increased circulating antibody level, Arthritis, ... ORPHA:2137
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien... OMIM:240300
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Central adrenal insufficiency OMIM:612079
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Nephritis, Increased circulating IgA level, Increased circulating IgM level, Reduced ... OMIM:603909
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis, Allergic rhinit... ORPHA:183675
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level ORPHA:43
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism OMIM:614492
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... ORPHA:308552
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ... ORPHA:268
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... OMIM:261740
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Elevated circulating creatine kinase concentration, Inflammation of the... OMIM:614576
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... OMIM:610600
Thymic Aplasia
Hypocalcemic tetany, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to ... ORPHA:83471
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Eosinophilic infiltration of the esophagus, Decreased T cell activation, Pancol... OMIM:618213
Familial Glucocorticoid Deficiency
Precocious puberty, Decreased circulating aldosterone level, Decreased circulating dehydroepiandr... ORPHA:361
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Flynn-Aird Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Primary adrenal insufficiency ORPHA:2047
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556037
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypogonadism OMIM:617575
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism ORPHA:300298
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Prolactinoma
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... ORPHA:2965
X-Linked Lymphoproliferative Disease
Hypertriglyceridemia, Decreased circulating total IgM, Fulminant hepatitis, Decreased circulating... ORPHA:2442
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556030
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Decreased lympho... OMIM:619381
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... ORPHA:91350
Familial Hypoaldosteronism
Adrenal insufficiency, Increased circulating renin level, Decreased circulating aldosterone level ORPHA:427
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... ORPHA:91355
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Decreased serum zinc OMIM:201100
Beta-Thalassemia Intermedia
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism ORPHA:231222
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Membranous n... ORPHA:449395
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level OMIM:203400
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency ORPHA:261476
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Eczema, Recurrent sinusiti... OMIM:301000
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... ORPHA:980
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hypothyroidism, Hyperthyroidism, Type II diabetes mellitus, Primary adrenal insufficienc... OMIM:269200
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... ORPHA:91347
Orotic Aciduria
Impaired T cell function OMIM:258900
Kearns-Sayre Syndrome
Diabetes mellitus, Hypoparathyroidism, Primary adrenal insufficiency OMIM:530000
Dominant Beta-Thalassemia
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... ORPHA:231226
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Increased ci... ORPHA:449432
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Adrenal calcification OMIM:278000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Myasthenia Gravis
Abnormality of the thymus, Hashimoto thyroiditis, Hyperthyroidism, Primary adrenal insufficiency ORPHA:589
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:398073
Addison Disease
Thymoma, Decreased circulating aldosterone level, Increased circulating ACTH level, Decreased cir... ORPHA:85138
Adrenomyeloneuropathy
Adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Primary ad... ORPHA:139399
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... ORPHA:289548
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Mirage Syndrome
Adrenal insufficiency, Hypergonadotropic hypogonadism, Adrenal hypoplasia OMIM:617053
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... ORPHA:54595
Beta-Thalassemia Major
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... ORPHA:231214
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma ORPHA:139411
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Myocarditis, Increased circulating interleukin 6 concentration, Abnormality of ... ORPHA:544482
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... ORPHA:168558
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insu... ORPHA:2905
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
Autoimmune Polyendocrinopathy Type 3
Thymoma, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Type I diabetes mellitus, ... ORPHA:227982
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Decreased circulating cortisol level, Pituitary adenoma, Type I... ORPHA:199299
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... OMIM:176270
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Increased circulating ACTH level, Decreased circulating ... ORPHA:95409
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Iridocyclitis, Increased circulating antibody level, Arthritis, Abnormality of T ... OMIM:181000
Autoimmune Polyendocrinopathy Type 4
Thymoma, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adrenal insufficiency, ... ORPHA:227990
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... ORPHA:391665
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
46,Xy Partial Gonadal Dysgenesis
Primary gonadal insufficiency, Decreased serum estradiol, Absence of secondary sex characteristic... ORPHA:251510
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Zellweger Syndrome
Primary adrenal insufficiency ORPHA:912
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Allergic conjunctivitis, Allergic rhinitis OMIM:176690
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Central a... ORPHA:488632
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... ORPHA:90794
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... ORPHA:293978
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... ORPHA:99125
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Pearson Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Dia... ORPHA:699
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency OMIM:261515
Crimean-Congo Hemorrhagic Fever
Hyperhidrosis, Adrenal insufficiency, Acute pancreatitis, Parotitis, Orchitis, Inappropriate anti... ORPHA:99827
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... ORPHA:363958
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, De... OMIM:201750
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency ORPHA:275761
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Pallister-Hall Syndrome
Precocious puberty, Gonadotropin deficiency, Hypopituitarism, Thyroid hypoplasia, Panhypopituitar... ORPHA:672
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Acute Liver Failure
Adrenal insufficiency ORPHA:90062
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753

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 Rcan1

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 Rcan1.

No publications found that use IMPC mice or data for Rcan1.

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MGI Allele Allele Type Produced
Rcan1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Rcan1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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