Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
dual specificity phosphatase 14
Synonyms:
Mkp6,  1110014C10Rik,  MKP-L,  2310042C07Rik,  D11Ertd395e

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Dusp14 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 Dusp14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Rheumatoid factor ... OMIM:601859
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Abnormal Z disc morphol... OMIM:618654
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, ... ORPHA:169079
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, T lymphocytopenia, Lack of T cell function, B lymphocytopenia, Anti-thyroid peroxid... ORPHA:277
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Inc... OMIM:614470
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmunity, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:603909
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:300853
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Antimitochondrial antibody posi... OMIM:610163
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Insulin Autoimmune Syndrome
Increased circulating antibody level, Autoimmunity, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Antinuclear antibody positivity, Increased circulating antibody level, Syst... OMIM:178610
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:607594
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Prolonged QT interval, Ventricular septal d... OMIM:601005
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Systemic lu... ORPHA:444463
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine level, Hypertrophi... OMIM:212140
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia, Recurrent lower respirat... OMIM:619170
Immunodeficiency, Common Variable, 2
Autoimmunity, Decreased circulating IgG level, Decreased circulating IgA level, Partial absence o... OMIM:240500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Decreased circulating IgG level, Decreased circulating total IgM, Decreased proport... ORPHA:331206
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduced natural killer ... OMIM:615559
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody ... OMIM:617780
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Immunodeficiency 36
Autoimmunity, Splenomegaly, Decreased circulating antibody level, Chronic lymphatic leukemia, Lym... OMIM:616005
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Pleural effusio... OMIM:235200
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, T lymphocytopenia, Abnormal CD4:CD8 ratio, Lack of T cell function, A... ORPHA:572
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly, Asymmetric septal hyper... OMIM:252920
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HRCT, Hepatomegal... ORPHA:99931
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Recurrent lower respiratory tra... OMIM:253250
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Immunodeficiency 7
Autoimmunity, Hypereosinophilia OMIM:615387
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Rheumatoid factor positive, Decreased eosinophil count, Anti-thy... OMIM:619632
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Absence Of The Pulmonary Artery
Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edema, Recurrent ... ORPHA:980
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic ane... OMIM:613011
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Neuraminidase Deficiency
Skeletal muscle atrophy, Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Firm muscles, Splenomegaly, Hepatomegaly, ... OMIM:232300
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... ORPHA:48377
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory t... ORPHA:308552
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presen... ORPHA:231154
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Abnormal circulating interleukin... ORPHA:158061
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449400
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Cardi... OMIM:201475
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary artery vasocon... OMIM:178600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Myopathy, Cardiomegaly ORPHA:42
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, P... ORPHA:3384
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hepatospleno... ORPHA:35078
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased circulating IgG level, Rheumatoid factor positive, Autoimmune hemolytic a... ORPHA:3261
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Torticollis, Cardiomegaly, Pulmonary hypoplasia OMIM:617022
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure, Limb muscle weakness OMIM:619259
Sickle Cell Anemia
Cardiomegaly, Hypertension, Hepatomegaly, Splenomegaly OMIM:603903
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Sple... ORPHA:465508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Ca... OMIM:616897
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiology, Imbala... ORPHA:99867
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy, Camptodactyly of toe, Cardi... ORPHA:158687
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decre... OMIM:615952
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abnormality of B cell phy... OMIM:613179
Pgm3-Cdg
Autoimmunity, Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Rheumatoid factor... ORPHA:443811
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
X-Linked Lymphoproliferative Disease
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Absent natural killer cells, Histioc... ORPHA:2442
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Macroglossia,... OMIM:268800
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Atrial s... ORPHA:95430
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia ORPHA:79280
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Rhabdomyolysis, Sudden cardiac death, Hepatomegaly, Pulmonary arterial hy... OMIM:614921
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Autoimmune hemolytic anemia, Autoimmu... ORPHA:760
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity, Lymphopenia, Abnorma... OMIM:242700
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Increased circulating IgA level,... OMIM:600903
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Elbow flexion contracture, Atrial septal defect, Spl... OMIM:602782
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Leukocytosis, Agammaglobulinemia, Thrombocytosis, Autoimmune hemolytic anemia, Decr... OMIM:243150
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Eosinophilia, Increased circulat... OMIM:301000
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Fucosidosis
Flexion contracture, Splenomegaly, Hepatomegaly, Macroglossia, Recurrent respiratory infections, ... OMIM:230000
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Panhypogammaglobulinemia, Cutaneous anergy, Agammaglobulinemia OMIM:209920
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Aortic regurgitation, Diastasis recti, Congestive heart failure, Hypertrophi... OMIM:252500
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Increased muscle lipid content, Hepatomegaly... OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Facial hypotonia, Shortened PR interval, Lower limb muscle weakness, Left ve... ORPHA:365
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Mucosal telangiectasiae, Thenar muscle atrophy, Hypoplasia of the musc... ORPHA:2463
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune antibody positivity, Autoi... ORPHA:227990
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Arrhythmia, Heart block, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Abnormal lym... ORPHA:1830
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Arthrogryposis multiplex congenita, Cardiomegaly,... OMIM:608013
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune antibody positivity, Hashi... ORPHA:227982
Thymic Aplasia
Autoimmunity, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive ... ORPHA:83471
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Impaired T cell function, Decreased specific anti-polysaccharide anti... OMIM:614576
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Flexion contracture, Reduced ejection fraction, Abnormal mitral v... ORPHA:581
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Beckwith-Wiedemann Syndrome
Enlarged kidney, Diastasis recti, Pancreatic hyperplasia, Hepatomegaly, Macroglossia, Cardiomyopa... OMIM:130650
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Recurrent respiratory infections, Pulmonary fibrosis, Ventricul... OMIM:618278
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Decreased proportion of CD4-positiv... OMIM:242840
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Congenital diaphragmatic hernia, Bicuspid aortic valv... OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Igg4-Related Thyroid Disease
Autoimmunity, Hashimoto thyroiditis, Anti-thyroglobulin antibody positivity, Increased circulatin... ORPHA:64744
Bohring-Opitz Syndrome
Facial hypotonia, Bilateral wrist flexion contracture, Abnormal cardiac septum morphology, Recurr... ORPHA:97297
Igg4-Related Submandibular Gland Disease
Autoimmunity, Eosinophilia, Increased circulating IgG level, Increased circulating IgG4 level, In... ORPHA:449432
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Macroglossia ORPHA:96191
Abetalipoproteinemia
Congestive heart failure, Hepatomegaly, Myopathy, Distal lower limb muscle weakness, Cardiomegaly ORPHA:14
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Subvalvular aortic stenosis, Tendon rupture, Congestive heart failure, Mitr... OMIM:182250
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Flexion contracture, Camptodactyly of finger, Elbow... OMIM:256040
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Sweet Syndrome
Increased circulating interleukin 6 concentration, Sterile abscess, Abnormal circulating interleu... ORPHA:3243
Immunodeficiency 58
Decreased T cell activation, Cutaneous abscess, Decreased circulating antibody level, Decreased s... OMIM:618131
Aicardi-Goutières Syndrome
Cardiomegaly, Myositis, Hepatosplenomegaly, Multiple joint contractures, Hypertrophic cardiomyopa... ORPHA:51
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Beckwith-Wiedemann Syndrome
Enlarged kidney, Diastasis recti, Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Leiomyosarcoma, ... ORPHA:116
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Weak pulse, Myocardial calcification, Retinal hemorrhage, ... ORPHA:51608
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Renovascular hyperten... ORPHA:3472
Williams Syndrome
Macroglossia, Hypertension, Ventricular septal defect, Mitral regurgitation, Cardiomegaly, Overri... ORPHA:904
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Pancytopenia, Splenomegaly, Abnormality of T cell physiology OMIM:181000
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Autoimmunity, Splenomegaly, Impaired T cell function, Hypoplasia of the thymus, Thrombocytopenia ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Splenomegaly, Impaired T cell function, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400

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 Dusp14

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 Dusp14.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dusp14em1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Dusp14em1(IMPC)Wtsi Deletion Mice
Dusp14tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dusp14tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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