Gene Summary

Name:
yippee like 2
Synonyms:
E130113K08Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Ypel2em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Ypel2em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Ypel2em1(IMPC)Tcp HOM Early adult 8.90×10-05
enlarged urinary bladder Ypel2em1(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Ypel2em1(IMPC)Tcp HOM   Early adult 1.78×10-05
prolonged QT interval Ypel2em1(IMPC)Tcp HOM Early adult 2.12×10-06
abnormal tooth morphology Ypel2em1(IMPC)Tcp HOM Early adult 5.75×10-06
increased mean corpuscular volume Ypel2em1(IMPC)Tcp HOM   Early adult 2.94×10-05

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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.

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

47 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Ypel2 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 Ypel2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Bidirectional ventricula... OMIM:170390
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Oslam Syndrome
Clinodactyly of the 5th finger, Carious teeth, Abnormality of neutrophils, Radioulnar synostosis,... ORPHA:2760
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Andersen-Tawil Syndrome
Torsade de pointes, Premature ventricular contraction, Micrognathia, Bidirectional ventricular ec... ORPHA:37553
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Mitral regurgitation, Triphalangeal thumb, Short thumb, Micrognathi... OMIM:612561
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, 3-Methylglutaric aciduria, Normochromic microcytic anemia, Congestive hea... OMIM:610198
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 8
Neutropenia, Thick upper lip vermilion, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Sandal gap, Increased QRS voltage, Mandibular pro... OMIM:619040
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Syndactyly, Sudden cardiac death, Syncope, Prolonged... OMIM:618447
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia... ORPHA:398124
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Timothy Syndrome
Thin upper lip vermilion, Cutaneous syndactyly, Microdontia, Prolonged QT interval, Bradycardia, ... OMIM:601005
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Increased mean corpuscular volume,... ORPHA:98870
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Iron deficiency anemia, Syncope, Prolon... ORPHA:90647
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Neutropenia, Anemia, Recurrent sinusitis, Increased mean c... OMIM:618849
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... ORPHA:2501
16Q24.3 Microdeletion Syndrome
High palate, Dilated cardiomyopathy, Solitary median maxillary central incisor, Long philtrum, Mi... ORPHA:261250
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Methylcobalamin Deficiency Type Cble
Pancytopenia, Clinodactyly, Hemolytic-uremic syndrome, Neutropenia, Increased mean corpuscular vo... ORPHA:2169
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Dentinogenesis Imperfecta
Finger joint hypermobility, Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental roo... ORPHA:49042
Shwachman-Diamond Syndrome
Pancytopenia, Chronic neutropenia, Anemia, Aplastic anemia, Metaphyseal widening, Thrombocytopeni... ORPHA:811
Diamond-Blackfan Anemia 7
Horseshoe kidney, Triphalangeal thumb, Short thumb, Neutropenia, Increased mean corpuscular volum... OMIM:612562
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Delayed eruption of teeth, Enamel hypoplasia, Cortical subperiosteal resorp... ORPHA:94089
Blackfan-Diamond Anemia
Short thumb, Micrognathia, Persistence of hemoglobin F, Thrombocytopenia, Macrocytic dyserythropo... ORPHA:124
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Persistence of primary teeth, Osteol... OMIM:265800
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial in... ORPHA:90065
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial h... ORPHA:251274
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Pericarditis, Thrombocytopenia, Prolonged QTc interval ORPHA:231111
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Decr... OMIM:616860
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Beta-Thalassemia Major
Bowing of the long bones, Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular ... ORPHA:231214
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Dominant Beta-Thalassemia
Bowing of the long bones, Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular ... ORPHA:231226
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic aciduria, Increased mean corpuscular volume, Homocystinuria OMIM:277410
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... OMIM:129540
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Perineal hypospadias, Normochromic microcytic anemia, 3-Methylglutaconic ... ORPHA:66634
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Broad hallux, Micrognathia, Increased overbite, Retrognathia, Broad t... OMIM:613684
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Simpson-Golabi-Behmel Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Bundle branch block, Abnormal rib morphology, Mac... ORPHA:373
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Increased circu... ORPHA:85451
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular... ORPHA:36913
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Hemolytic anemi... OMIM:611590
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Rett Syndrome
Prolonged QTc interval, Abnormality of the dentition, Abnormal T-wave, Short foot OMIM:312750
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Hepatomega... ORPHA:26793
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Carnosinuria, Cardiomyopathy OMIM:309930
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Palpi... ORPHA:86839
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Bradycardia, Tachycardia OMIM:613327
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Pseudohypoparathyroidism Type 1C
Brachydactyly, Short 5th metacarpal, Delayed eruption of teeth, Enamel hypoplasia, Short metacarp... ORPHA:79444
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hematuria, Acute kidney injury, Proteinuria, Glomerulon... ORPHA:90068
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Eem Syndrome
Finger syndactyly, Microdontia, Widely spaced teeth, Carious teeth, Ectrodactyly, Abnormality of ... ORPHA:1897
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Congestive heart failure, Hypotensi... ORPHA:31826
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Malar flattening, Mandibular prognathia OMIM:300352
Gitelman Syndrome
Proteinuria, Iron deficiency anemia, Renal tubular acidosis, Ventricular fibrillation, Enuresis, ... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Torsade de pointes, Drooling, Ventricular tachycardia, ... OMIM:616878
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, High-output congestive heart failure, Proximal tubulopathy, Spl... ORPHA:231222
Pseudohypoparathyroidism Type 1A
Brachydactyly, Short 5th metacarpal, Delayed eruption of teeth, Enamel hypoplasia, Short metacarp... ORPHA:79443
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Gitelman Syndrome
Ventricular tachycardia, Enuresis, Polyuria, Nocturia, Hypotension, Palpitations, Prolonged QT in... OMIM:263800
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Coxa valga, Carious teeth, Hyperphosphaturia, Hypoplasia of teeth, Pulmonic stenosis,... OMIM:613312
17Q24.2 Microdeletion Syndrome
Short philtrum, Upper limb undergrowth, Micrognathia, Pulmonic stenosis, Prolonged QT interval, B... ORPHA:529962
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Prolon... ORPHA:71212
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Abnormal ri... ORPHA:1452
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Persistence of primary teeth, Carious tee... OMIM:259710
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Urinary re... ORPHA:79102
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Horseshoe kidney, Chordee, Short 4th metacarpal, Micropenis, Hypospadias, Micrognath... ORPHA:1772
Craniometadiaphyseal Dysplasia
Genu varum, Absent paranasal sinuses, High palate, Coxa valga, Microdontia, Carious teeth, Flared... OMIM:269300
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Exercise-Induced Malignant Hyperthermia
Oliguria, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Acute kidney injury, Hypot... ORPHA:466650
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, High, narrow palate, Hypertension, Short toe, Retrognathia, Genu valgum, Hip dyspla... ORPHA:99413
Turner Syndrome
Micrognathia, High, narrow palate, Hypertension, Short toe, Retrognathia, Genu valgum, Hip dyspla... ORPHA:881
Mosaic Monosomy X
Micrognathia, High, narrow palate, Hypertension, Short toe, Retrognathia, Genu valgum, Hip dyspla... ORPHA:99228
Monosomy X
Micrognathia, High, narrow palate, Hypertension, Short toe, Retrognathia, Genu valgum, Hip dyspla... ORPHA:99226
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Wild Type Attr Amyloidosis
Nephrotic syndrome, Arrhythmia, Proteinuria, Congestive heart failure, Abnormal EKG, Hypertrophic... ORPHA:330001
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, 2-4 toe cutaneous syndactyly, Long philtrum, Delayed eruption of teeth, 4-5 finger ... OMIM:257850
Al Amyloidosis
Increased circulating troponin I concentration, Abnormal salivary gland morphology, Nephrotic syn... ORPHA:85443
Atrial Septal Defect, Ostium Primum Type
Right bundle branch block, Atrial fibrillation, Third heart sound, Mitral regurgitation, Left ven... ORPHA:99106
Cardiogenic Shock
Oliguria, ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugul... ORPHA:97292
Loeffler Endocarditis
Eosinophilia, Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestiv... ORPHA:75566
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, Chronic hemolytic anemia, Hemolytic... OMIM:618278
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Dpagt1-Cdg
Clinodactyly, Hepatomegaly, Arachnodactyly, Anemia, Prolonged QT interval, Camptodactyly, Intracr... ORPHA:86309
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, High palate, Progressive bowing of long bones, Delay... OMIM:224300
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Asymmetry of the mouth, Absent distal phalange... OMIM:186500
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Postaxial foot polydactyly, Short sternum, Microdontia, Supernumerar... OMIM:258850
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum OMIM:184800
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Castleman Disease
Hematuria, Anemia, Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Decreas... ORPHA:160
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Familial Osteodysplasia, Anderson Type
Missing ribs, Clinodactyly of the 5th finger, Aplastic clavicle, Carious teeth, Failure of erupti... ORPHA:2769
Dextrocardia
Abnormality of the ureter, T-wave inversion, Abnormal EKG, Congenital hip dislocation, Abnormal r... ORPHA:1666
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Micrognathia, Hamartoma of tongue, Short tib... ORPHA:2751
Enamel-Renal Syndrome
Amelogenesis imperfecta, Nephrocalcinosis, Delayed eruption of teeth, Enuresis, Yellow-brown disc... ORPHA:1031
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Mandibular pain, ... ORPHA:99880
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Mandibular pain, ... ORPHA:143
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Congenital Sialidosis Type 2
Hepatosplenomegaly, Abnormal EKG, Hepatomegaly, Polydactyly, Telangiectasia, Protruding tongue, G... ORPHA:93400
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Left ventricular outflow tract obstru... ORPHA:860
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Long philtrum, Hydronephrosis, Tapered finger, Micrognathia, Ureteropelvic junct... ORPHA:444072
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated urinary dopamine, Abnormal EKG, Nocturia, Anemia, Orthostatic s... ORPHA:230
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Coffin-Lowry Syndrome
Narrow iliac wing, High palate, Coxa valga, Short metacarpal, Open mouth, Hypodontia, Tapered fin... OMIM:303600
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Friedreich Ataxia
Abnormal echocardiogram, Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Abnormality of dental structure, Tapered finger, Micrognathia, H... ORPHA:3472
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Increased urinary potassium... ORPHA:231625
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Hypercalciuria, Gingival fibromatosis, Hematemesis, Hypertension, Melena, Shorte... ORPHA:652
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Expanded metacarpals with widened medullary cavities, Expand... OMIM:182250
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Myeloproliferative... ORPHA:70591
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... ORPHA:1686
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Ulbright-Hodes Syndrome
Narrow mouth, High palate, Abnormal forearm bone morphology, Phocomelia, Short sternum, Short rib... ORPHA:3404
Craniorachischisis
Bifid sternum ORPHA:63260
Friedreich Ataxia And Congenital Glaucoma
Hammertoe, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomy... OMIM:229310
Lacrimoauriculodentodigital Syndrome
Bilateral triphalangeal thumbs, Clinodactyly of the 5th finger, Coronal hypospadias, Radial devia... OMIM:149730
Friedreich Ataxia 2
Hammertoe, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Concentric hypertroph... OMIM:601992
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Exaggerated cupid's bow, Cardiac conduction abnormality, Cardiomyopa... ORPHA:2131
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Hammertoe, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Concentric hypertroph... OMIM:302900
African Trypanosomiasis
Second degree atrioventricular block, Hepatosplenomegaly, Arrhythmia, Congestive heart failure, A... ORPHA:3385
Woodhouse-Sakati Syndrome
Micropenis, Anodontia, Abnormal T-wave OMIM:241080
Woodhouse-Sakati Syndrome
Micropenis, Anodontia, Abnormal T-wave ORPHA:3464

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 Ypel2

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 Ypel2.

No publications found that use IMPC mice or data for Ypel2.

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MGI Allele Allele Type Produced
Ypel2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ypel2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ypel2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ypel2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ypel2em1(IMPC)Tcp Exon Deletion Mice

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