Gene Summary

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

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
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

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

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
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 11
Pneumonia, Decreased circulating antibody level OMIM:615206
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 18
Recurrent otitis media, Defective T cell proliferation OMIM:615615
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
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 pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased specifi... OMIM:615897
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:619707
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Immunodeficiency 66
Recurrent skin infections, Defective T cell proliferation, Pustule OMIM:618847
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Recurre... OMIM:607594
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:240500
Attrv30M Amyloidosis
Arrhythmia, Impotence, Cardiomyopathy, Atrioventricular block, Cardiomegaly, Weight loss ORPHA:85447
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Lack of T cell function, Inflammatory abn... ORPHA:277
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased circulating ... OMIM:618969
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Autoimmune Polyendocrinopathy Type 2
Primary adrenal insufficiency, Hashimoto thyroiditis, Graves disease, Abnormality of the thyroid ... ORPHA:3143
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Bronchiectasis, Herpes simplex encephali... OMIM:618982
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Reduced na... OMIM:619281
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency, Hypogonadism OMIM:612079
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diameter, Type 1 mu... OMIM:618654
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Eczema, Reduced d... OMIM:617241
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgG level, Complete or near-complete absence of specif... OMIM:610163
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis OMIM:241600
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Bronchiectasis, Increased circulating Ig... OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Decreased CD69 upregulation upon TCR activat... OMIM:300853
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Decreased ci... OMIM:300200
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Increased circulating IgA level, Elevated circu... OMIM:619632
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Decreased circulating antibody level OMIM:618042
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, Decreased circ... OMIM:618394
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Decreased circ... OMIM:616100
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Chronic oral candidiasis, Increa... ORPHA:169160
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Increased circulating IgM level, Increased inflammato... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Interstitial pneumonitis, Decreased circulating IgA level, Ulcer... OMIM:614878
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Sclerosing cholangitis, Lack of T cell function, Decreased circulating beta-2-microglo... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Hashimoto thyroiditis, Decreased circulating IgA level, Recurren... ORPHA:275
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to g... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to g... ORPHA:71526
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Increased circulati... OMIM:243700
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Arrhythmia, Azoospermia, Congestive heart failure, Tel... OMIM:235200
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Cholangitis, Decreased circul... OMIM:619652
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine level, Hypertrophi... OMIM:212140
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:619510
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Cutaneous ane... OMIM:209920
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism OMIM:617872
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:615577
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Partial Ig... ORPHA:35078
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Smal... ORPHA:555874
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Pneumonia, Abnormality of B cell physiology, Cutaneous anergy, Decreased ... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating total IgM, Decreased ci... OMIM:602668
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Increased circulating IgG level, Uveitis, Increased circulating IgA level, El... OMIM:617388
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Increased circ... OMIM:177735
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... ORPHA:91349
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Portal hypertension, Elevated jugular venous pressure... ORPHA:465508
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Reduced delayed hypersensitivity, Pyo... OMIM:242700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Cutaneous abscess, Colitis, Decreased circulati... OMIM:618131
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Abnormality of B cell physiology, Increased circulating inosine concentrati... OMIM:613179
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Decreas... OMIM:300755
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Glomerulonephritis, Inf... ORPHA:2137
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Pneumonia, Increased circulating IgA level, Inflammat... OMIM:600903
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Uveitis... OMIM:614700
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypogonadism, Decrea... OMIM:240300
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Viral h... ORPHA:183675
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Adrenocorticotropic hormone excess, Primary adrenal insuffici... ORPHA:90793
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Hypoproteinemia, Hypocalcemia, ... ORPHA:90362
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level ORPHA:43
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia,... ORPHA:308552
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Impaired T cell function, Inflammation of the large intestine, Elevated... OMIM:614576
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... OMIM:610600
Thymic Aplasia
Sinusitis, Pneumonia, Chronic oral candidiasis, Atypical or prolonged hepatitis, Thyroiditis, Oli... ORPHA:83471
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypogonadism OMIM:617575
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Abnormality of... ORPHA:361
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556037
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Ane Syndrome
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... ORPHA:157954
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... ORPHA:95512
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Igg4-Related Kidney Disease
Decreased serum complement C4, Elevated circulating creatinine concentration, Prostatitis, Arteri... ORPHA:449395
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism ORPHA:300298
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556030
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating ferritin ... ORPHA:2442
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Pancolitis, Defective T cell prolif... OMIM:618213
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Decreased circulating ACTH level, Central adr... ORPHA:2965
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 level, Dec... ORPHA:90363
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level ORPHA:427
Sickle Cell Anemia
Priapism, Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Hyperthyroidism... OMIM:269200
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopit... ORPHA:91355
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Impaired T cell function OMIM:201100
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency ORPHA:261476
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Recurrent otitis media, Crohn's disease, Recurrent skin infectio... OMIM:619381
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Central adrenal insufficiency, Adrenocorticotropin deficient adrenal... ORPHA:91347
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus, Hypogonadism ORPHA:231222
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:301000
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Kearns-Sayre Syndrome
Primary adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism OMIM:530000
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Hypopituitarism, Hypoparathyroidism, Diabetes mellitus, De... ORPHA:231226
Myasthenia Gravis
Hashimoto thyroiditis, Abnormality of the thymus, Primary adrenal insufficiency, Hyperthyroidism ORPHA:589
Orotic Aciduria
Impaired T cell function OMIM:258900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98754
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Prostatitis, Incr... ORPHA:449432
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177901
Addison Disease
Primary adrenal insufficiency, Increased circulating renin level, Hashimoto thyroiditis, Decrease... ORPHA:85138
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Adrenal calcification OMIM:278000
Adrenomyeloneuropathy
Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Adrenoc... ORPHA:139399
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Increased circulating renin le... ORPHA:289548
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypopituitarism, Central adrenal insuf... ORPHA:54595
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Decreased circulating cortisol level, Adrenocorticotropi... OMIM:231550
Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:398073
Beta-Thalassemia Major
Adrenal insufficiency, Hypothyroidism, Hypopituitarism, Hypoparathyroidism, Diabetes mellitus, De... ORPHA:231214
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Carney Triad
Paraganglioma, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity ORPHA:139411
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Hyponatremia, Hyperkalemia, Hypocal... ORPHA:544482
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Decreased response to gro... OMIM:176270
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Increased circulating renin le... ORPHA:168558
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Increased circulating prolactin concentration, Dia... ORPHA:2905
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol level, Adrenocorticotropin ... ORPHA:199299
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Decreased inhibin B level, Cen... ORPHA:739
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Increased circulating renin level, Decreased circulating cortisol ... ORPHA:95409
Sarcoidosis, Susceptibility To, 1
Uveitis, Abnormality of T cell physiology, Inflammation of the large intestine, Increased circula... OMIM:181000
Mirage Syndrome
Adrenal insufficiency, Hypergonadotropic hypogonadism OMIM:617053
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Abnormal left ventricular function, Sudden cardiac death, Myocardial ... ORPHA:391665
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal circulating t... ORPHA:786
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Primary gonadal insufficiency, Delayed puberty, Elevated circulating lutei... ORPHA:251510
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Zellweger Syndrome
Primary adrenal insufficiency ORPHA:912
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogonadism ORPHA:139396
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, A... ORPHA:3384
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis OMIM:176690
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function OMIM:192430
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... ORPHA:488632
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Pearson Syndrome
Exocrine pancreatic insufficiency, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Dia... ORPHA:699
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency OMIM:261515
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Acute pancreatitis, Orchitis, Parotitis, Inappropriate antidiuretic hormon... ORPHA:99827
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Precocious puberty, Decreased respons... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Precocious puberty, Decreased respons... ORPHA:363958
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Pallister-Hall Syndrome
Gonadotropin deficiency, Primary adrenal insufficiency, Panhypopituitarism, Hypopituitarism, Cent... ORPHA:672
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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