Gene Summary

retinoic acid induced 14
1700020L11Rik,  Ankycorbin,  1700008J19Rik,  Norpeg

IMPC Phenotype Summary

Not Significant
Not tested


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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Skull Dorso Ventral Orientation

12 Images


XRay Images Whole Body Dorso Ventral

12 Images


XRay Images Whole Body Lateral Orientation

12 Images


XRay Images Forepaw

12 Images


XRay Images Skull Lateral Orientation

12 Images

MicroCT E18.5

Embryo reconstruction

5 Images

Auditory Brain Stem Response

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

8 Images

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
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
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Edema OMIM:614103
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
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
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria OMIM:154800
Breath-Holding Spells
Cyanosis OMIM:607578
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly OMIM:615234
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Apnea, Central Sleep
Cyanosis OMIM:207720
Perching Syndrome
Cyanosis OMIM:617055
Congenital Pulmonary Lymphangiectasia
Cyanosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia ORPHA:2169
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly OMIM:611590
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... ORPHA:300298
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... ORPHA:86839
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Eosinophilic Fasciitis
Edema, Muscular edema, Acrocyanosis ORPHA:3165
Lymphatic Malformation 2
Lymphedema OMIM:611944
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... ORPHA:811
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... ORPHA:231222
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Buerger Disease
Acrocyanosis ORPHA:36258
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:848
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Pulmonary edema ORPHA:70587
Tricuspid Atresia
Cyanosis ORPHA:1209
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Hypoxemia, Pleural effusion, Peripheral edema ORPHA:79126
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pedal edema, Pulmonary edema, Pericardial effusion, Hypoxemia, Pleural effusion ORPHA:199241
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Asbestos Intoxication
Cyanosis, Edema, Hypoxemia, Oxygen desaturation on exertion ORPHA:2302
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Isolated Right Ventricular Hypoplasia
Cyanosis, Pedal edema, Hypoxemia ORPHA:439
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia ORPHA:91359
Acquired Methemoglobinemia
Cyanosis, Hypoxemia ORPHA:464453
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... OMIM:265300
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema, Pericardial effusion, Pleural effusion, Peripheral edema, Anasarca, As... OMIM:261740
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Superficial Epidermolytic Ichthyosis
Edema, Erythema ORPHA:455
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia OMIM:610910
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Purpura, Edema ORPHA:90051
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia ORPHA:2257
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema ORPHA:2038
Dravet Syndrome
Cyanotic episode ORPHA:33069
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Urticaria ORPHA:343
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Pericardial effusion ORPHA:555874
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Meckel Syndrome 14
Cyanosis, Increased nuchal translucency, Oligohydramnios OMIM:619879
Eisenmenger Syndrome
Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia ORPHA:97214
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Congenital Myasthenic Syndrome
Cyanosis, Polyhydramnios ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Polyhydramnios ORPHA:98914
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Poems Syndrome
Pericardial effusion, Acrocyanosis, Pleural effusion, Edema, Ascites ORPHA:2905
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Generalized edema OMIM:617478
Criss-Cross Heart
Cyanosis ORPHA:1461
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia ORPHA:747
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Tetrasomy 5P
Cyanosis ORPHA:3309
Choanal Atresia
Cyanosis ORPHA:137914
Aicardi-Goutieres Syndrome 1
Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice OMIM:225750
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
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
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Atrioventricular septal defect 3
Cyanosis OMIM:600309
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Cardiac Valvular Dysplasia 1
Cyanosis, Edema, Hydrops fetalis, Inguinal hernia OMIM:212093
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis OMIM:265120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Peripheral edema ORPHA:99106
Vascular skin abnormality, Acrocyanosis ORPHA:349
Pulmonary Alveolar Microlithiasis
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Peripheral edema ORPHA:60025
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Cutis marmorata, Urticaria ORPHA:183
Arnold-Chiari Malformation Type Ii
Cyanosis ORPHA:1136
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Absence Of The Pulmonary Artery
Cyanosis, Pedal edema, Hypocapnia, Pulmonary edema ORPHA:980
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Hypoxemia OMIM:610921
Esophageal Atresia
Cyanosis, Polyhydramnios, Omphalocele ORPHA:1199
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia ORPHA:330015
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Congenital Tracheal Stenosis
Cyanosis, Polyhydramnios, Fetal ascites, Oligohydramnios ORPHA:141127
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Cerebral edema OMIM:252010
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema ORPHA:99103
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Tarp Syndrome
Cyanosis ORPHA:2886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Myasthenia Gravis
Acrocyanosis ORPHA:589
Cutaneous photosensitivity, Acrocyanosis, Periorbital edema, Edema, Erythema, Telangiectasia of t... ORPHA:221
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Polyhydramnios, Omphalocele OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectasia, Tongue... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Facial telangiectasia, Nail bed... OMIM:600376
Classical Ehlers-Danlos Syndrome
Blepharochalasis, Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Inguinal herni... ORPHA:287
Aortic Arch Interruption
Cyanosis, Pedal edema ORPHA:2299
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Pitt-Hopkins Syndrome
Acrocyanosis, Hiatus hernia ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telang... OMIM:187300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Generalized Arterial Calcification Of Infancy
Cyanosis, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema, Ascites ORPHA:51608
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Premature skin wrinkling, Generalized abnormality of skin, Prominent superficial blood ... ORPHA:740
Truncus Arteriosus
Cyanosis, Pulmonary edema ORPHA:3384
Postinfectious Vasculitis
Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin ORPHA:48435
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Acrocyanosis, Cutis marmorata ORPHA:51
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
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


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

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

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