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Gene: Rai14 MGI:1922896

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Gene Summary

Name:
retinoic acid induced 14
Synonyms:
1700020L11Rik,  Ankycorbin,  1700008J19Rik,  Norpeg

Order Alleles

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 mean corpuscular volume Rai14em1(IMPC)J HET   Early adult 9.10×10-05
abnormal body wall morphology Rai14em1(IMPC)J HOM E18.5 0.00
preweaning lethality, incomplete penetrance Rai14em1(IMPC)J HOM   Early adult 0.00
decreased mean corpuscular hemoglobin concentration Rai14em1(IMPC)J HET   Early adult 3.25×10-05
edema Rai14em1(IMPC)J HOM E18.5 0.00
cyanosis Rai14em1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

5 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rai14 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 Rai14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Lipedema
Edema OMIM:614103
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Breath-Holding Spells
Cyanosis OMIM:607578
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Perching Syndrome
Cyanosis OMIM:617055
Congenital Pulmonary Lymphangiectasia
Cyanosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Congenital Heart Block
Cyanosis, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pleural effusion, Oligohydramnios ORPHA:60041
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Lymphatic Malformation 2
Lymphedema OMIM:611944
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
Buerger Disease
Acrocyanosis ORPHA:36258
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:70587
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Tricuspid Atresia
Cyanosis ORPHA:1209
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
White Sponge Nevus 2
Edema OMIM:615785
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Pleural effusion, Pulmonary edema ORPHA:199241
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Pleural effusion ORPHA:79126
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Edema ORPHA:2302
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Pedal edema ORPHA:439
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Superficial Epidermolytic Ichthyosis
Erythema, Edema ORPHA:455
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary ... OMIM:261740
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Sepsis In Premature Infants
Cyanosis, Edema, Jaundice, Petechiae, Purpura ORPHA:90051
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Dravet Syndrome
Cyanotic episode ORPHA:33069
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Pleural empyema, Telangiectasia ORPHA:2038
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Cyanosis, Hypoxemia ORPHA:555874
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Meckel Syndrome 14
Increased nuchal translucency, Cyanosis, Oligohydramnios OMIM:619879
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Myasthenic Syndrome
Cyanosis, Polyhydramnios ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Polyhydramnios ORPHA:98914
Choanal Atresia
Cyanosis ORPHA:137914
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Poems Syndrome
Edema, Pericardial effusion, Ascites, Pleural effusion, Acrocyanosis ORPHA:2905
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Generalized edema OMIM:617478
Criss-Cross Heart
Cyanosis ORPHA:1461
Tetrasomy 5P
Cyanosis ORPHA:3309
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Ethylene Glycol Poisoning
Cyanosis, Cerebral edema, Pulmonary edema ORPHA:31826
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Cardiac Valvular Dysplasia 1
Inguinal hernia, Cyanosis, Hydrops fetalis, Edema OMIM:212093
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis OMIM:265120
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Atrial Septal Defect, Ostium Primum Type
Peripheral edema, Cyanosis ORPHA:99106
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Pulmonary Alveolar Microlithiasis
Hypoxemia, Peripheral edema, Oxygen desaturation on exertion, Cyanosis ORPHA:60025
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Acrocyanosis, Cutis marmorata, Purpura ORPHA:183
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis, Pedal edema, Pulmonary edema ORPHA:980
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Esophageal Atresia
Omphalocele, Cyanosis, Polyhydramnios ORPHA:1199
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis OMIM:610921
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Congenital Tracheal Stenosis
Cyanosis, Fetal ascites, Polyhydramnios, Oligohydramnios ORPHA:141127
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Cerebral edema OMIM:252010
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema ORPHA:99103
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Tarp Syndrome
Cyanosis ORPHA:2886
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Cyanosis, Polyhydramnios OMIM:306955
Dermatomyositis
Telangiectasia of the skin, Edema, Periorbital edema, Erythema, Acrocyanosis, Cutaneous photosens... ORPHA:221
Myasthenia Gravis
Acrocyanosis ORPHA:589
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Joint swelling, ... ORPHA:287
Aortic Arch Interruption
Cyanosis, Pedal edema ORPHA:2299
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Pitt-Hopkins Syndrome
Acrocyanosis, Hiatus hernia ORPHA:2896
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Finge... OMIM:187300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Generalized Arterial Calcification Of Infancy
Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites ORPHA:51608
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... ORPHA:740
Truncus Arteriosus
Cyanosis, Pulmonary edema ORPHA:3384
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Postinfectious Vasculitis
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin ORPHA:48435
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Coffin-Lowry Syndrome
Inguinal hernia, Acrocyanosis, Cutis marmorata OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Goodpasture Syndrome
Cyanosis OMIM:233450
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Acrocyanosis ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125

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 Rai14

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 Rai14.

No publications found that use IMPC mice or data for Rai14.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rai14em1(IMPC)J Exon Deletion Mice

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