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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 Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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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
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
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 circulating IgA level, Decreased specific antibody res... OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Defective T cell pro... OMIM:615615
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis OMIM:614493
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Impotence ORPHA:85447
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev... OMIM:620632
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 62
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:618459
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Furuncle, Decreased circulating total IgM, ... OMIM:618969
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Glucocorticoid Deficiency 3
Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... OMIM:609197
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Increased c... OMIM:618982
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ... ORPHA:277
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent sinusiti... OMIM:300853
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Decreased specific antibody response to polysac... OMIM:241600
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... OMIM:301081
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... OMIM:619924
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Immunodeficiency 52
Recurrent pneumonia, Decreased circulating IgA level, Defective T cell proliferation, Decreased c... OMIM:617514
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... OMIM:308230
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Increased ... OMIM:209950
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... OMIM:618534
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... OMIM:616100
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Cutaneous abscess, Chron... OMIM:619752
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis... ORPHA:540
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Chron... ORPHA:572
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... OMIM:614878
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Immunodeficiency 112
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620449
Immunodeficiency 81
Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... ORPHA:436159
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Cardiomegaly, Telangiectasia... OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha... OMIM:209920
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Decreased circulating total... OMIM:619705
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
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
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Increased circulating IgA level, Keratoconjunctivitis sicca, Elevated circula... OMIM:617388
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circ... OMIM:177735
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... OMIM:600802
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration, Chilblains OMIM:615010
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Decreased libido, Portal hyperte... ORPHA:465508
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Chronic oral candidiasis, Decre... OMIM:615758
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:331206
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Reduced delayed hypersensitivity, Pyoderma, Bronchiec... OMIM:242700
Autoimmune Hepatitis
Inflammation of the large intestine, Increased total bilirubin, Sclerosing cholangitis, Increased... ORPHA:2137
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... OMIM:300755
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Reduced delayed hypersensitivity, Malar rash, Increased circulating IgA level, Increas... OMIM:603909
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T ce... OMIM:613179
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Decreased specific pneumococcal antibody level, Decreased circulating IgG leve... ORPHA:183675
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenal insufficiency, Adrenocorticotropin receptor defect,... OMIM:231550
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:609981
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Failure to thrive, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR inte... ORPHA:308552
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Wolman Disease
Adrenal calcification, Adrenal insufficiency ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri... ORPHA:3427
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Hypo... ORPHA:83471
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eosinophilic infiltrati... OMIM:618213
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556037
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556030
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl... ORPHA:79124
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased ... OMIM:619381
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level ORPHA:427
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Impaired T cell function OMIM:201100
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... OMIM:301000
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency ORPHA:261476
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Beta-Thalassemia Intermedia
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus ORPHA:231222
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Orotic Aciduria
Impaired T cell function OMIM:258900
Dominant Beta-Thalassemia
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Diab... ORPHA:231226
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus OMIM:530000
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Cholesteryl Ester Storage Disease
Adrenal calcification, Adrenal insufficiency OMIM:278000
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia, Psoriasiform dermatitis ORPHA:2237
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Mirage Syndrome
Adrenal insufficiency, Adrenal hypoplasia, Hypergonadotropic hypogonadism OMIM:617053
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Myasthenia Gravis
Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism ORPHA:589
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Adrenal calcification, Absence of secondary sex c... ORPHA:289548
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Hypocalcemia, Hyponatr... ORPHA:544482
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... ORPHA:85138
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Adrenocortical abnormality, Adrenal insufficiency, Primary ad... ORPHA:139399
Beta-Thalassemia Major
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Diab... ORPHA:231214
Carney Triad
Pheochromocytoma, Adrenal overactivity, Paraganglioma, Adrenocortical adenoma ORPHA:139411
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... ORPHA:199299
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Increas... ORPHA:168558
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... ORPHA:2905
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Acute Adrenal Insufficiency
Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Decrease... ORPHA:95409
Shwachman-Diamond Syndrome 1
Hepatomegaly, Myocardial necrosis, Small for gestational age, Failure to thrive OMIM:260400
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... ORPHA:251510
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function OMIM:176690
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Male hypogonadism, Primary adrenal insufficiency ORPHA:139396
Zellweger Syndrome
Primary adrenal insufficiency ORPHA:912
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function OMIM:192430
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Central adrenal insufficie... ORPHA:488632
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:293978
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... ORPHA:391487
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Pearson Syndrome
Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal... ORPHA:699
Glycerol Kinase Deficiency
Adrenal insufficiency, Chronic pancreatitis, Adrenocortical hypoplasia OMIM:307030
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency OMIM:261515
Crimean-Congo Hemorrhagic Fever
Parotitis, Adrenal insufficiency, Orchitis, Hyperhidrosis, Inappropriate antidiuretic hormone sec... ORPHA:99827
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy ORPHA:68
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363958
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency ORPHA:275761
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Cen... 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.

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
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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