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

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 Forepaw

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

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
Anemia, Imbalanced hemoglobin synthesis 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
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin 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
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology 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
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin 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
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Lipedema
Edema OMIM:614103
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis 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
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Mastocytosis, Cutaneous
Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria OMIM:154800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Breath-Holding Spells
Cyanosis OMIM:607578
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Cyanosis, Hydrops fetalis, Chylopericardium ORPHA:2414
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Perching Syndrome
Cyanosis OMIM:617055
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis OMIM:611590
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Congenital Heart Block
Oligohydramnios, Pleural effusion, Cyanosis, Peripheral edema, Pericardial effusion, Hydrops fetalis ORPHA:60041
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... ORPHA:300298
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Hypoxemia ORPHA:70587
Tricuspid Atresia
Cyanosis ORPHA:1209
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
White Sponge Nevus 2
Edema OMIM:615785
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Cyanosis, Pulmonary edema, Pericardial effusion, Hypoxemia, Pedal edema ORPHA:199241
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis, Edema ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Cyanosis, Pericardial effusion, Hypoxemia ORPHA:79126
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Pedal edema ORPHA:439
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Necrotizing Enterocolitis
Ascites, Gastroschisis, Cyanosis, Edema ORPHA:391673
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Superficial Epidermolytic Ichthyosis
Erythema, Edema ORPHA:455
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Ascites, Peripheral edema, Pleural effusion, Cyanosis, Pulmonary edema, Pericardial eff... OMIM:261740
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Dravet Syndrome
Cyanotic episode ORPHA:33069
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Purpura, Edema ORPHA:90051
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia, Pleural empyema ORPHA:2038
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Cyanosis, Hypoxemia ORPHA:555874
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Choanal Atresia
Cyanosis ORPHA:137914
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Meckel Syndrome 14
Oligohydramnios, Cyanosis, Increased nuchal translucency OMIM:619879
Poems Syndrome
Ascites, Pleural effusion, Plethora, Pericardial effusion, Acrocyanosis, Edema ORPHA:2905
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Myasthenic Syndrome
Polyhydramnios, Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Cyanosis ORPHA:98914
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Cardiogenic Shock
Cyanosis, Hypoxemia, Edema ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome
Generalized edema, Cyanosis OMIM:617478
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Tetrasomy 5P
Cyanosis ORPHA:3309
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Criss-Cross Heart
Cyanosis ORPHA:1461
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Cyanosis, Edema, Inguinal hernia OMIM:212093
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
Ethylene Glycol Poisoning
Pulmonary edema, Cerebral edema, Cyanosis ORPHA:31826
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis OMIM:265120
Atrial Septal Defect, Ostium Primum Type
Peripheral edema, Cyanosis ORPHA:99106
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Hypoxemia, Cyanosis, Peripheral edema ORPHA:60025
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Cutis marmorata, Purpura, Urticaria ORPHA:183
Esophageal Atresia
Polyhydramnios, Cyanosis, Omphalocele ORPHA:1199
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis OMIM:610921
Absence Of The Pulmonary Artery
Hypocapnia, Pulmonary edema, Cyanosis, Pedal edema ORPHA:980
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Congenital Tracheal Stenosis
Polyhydramnios, Fetal ascites, Oligohydramnios, Cyanosis ORPHA:141127
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebral edema, Cyanosis OMIM:252010
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Dehydration OMIM:259900
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema ORPHA:99103
Histiocytoid Cardiomyopathy
Pulmonary edema, Cyanosis ORPHA:137675
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cyanosis, Omphalocele OMIM:306955
Tarp Syndrome
Cyanosis ORPHA:2886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Myasthenia Gravis
Acrocyanosis ORPHA:589
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Blepharochalasis, Joint swelling, Inguinal hernia, E... ORPHA:287
Aortic Arch Interruption
Cyanosis, Pedal edema ORPHA:2299
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Dermatomyositis
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ... ORPHA:221
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Pitt-Hopkins Syndrome
Hiatus hernia, Acrocyanosis ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Generalized Arterial Calcification Of Infancy
Ascites, Cyanosis, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Truncus Arteriosus
Pulmonary edema, Cyanosis ORPHA:3384
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Postinfectious Vasculitis
Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin ORPHA:48435
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Inguinal hernia OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Goodpasture Syndrome
Cyanosis OMIM:233450
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Acrocyanosis, Bruising susceptibility 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.

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

Title Journal IMPC Allele PubMed ID
Retinoic acid-induced protein 14 controls dendritic spine dynamics associated with depressive-like behaviors. eLife (April 2022) Rai14em1(IMPC)J PMC9068211

Order Mouse and ES Cells

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

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