Gene Summary

Name:
inhibitor of growth family, member 5
Synonyms:
1810018M11Rik,  1700027H23Rik

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 snout morphology Ing5em1(IMPC)J HOM Early adult 5.63×10-07
increased fasting circulating glucose level Ing5em1(IMPC)J HOM Early adult 1.70×10-06
prolonged QRS complex duration Ing5em1(IMPC)J HOM Early adult 8.89×10-07
sclerocornea Ing5em1(IMPC)J HOM Early adult 6.91×10-05
preweaning lethality, incomplete penetrance Ing5em1(IMPC)J HOM   Early adult 0.00
impaired glucose tolerance Ing5em1(IMPC)J HOM Early adult 1.24×10-08
corneal vascularization Ing5em1(IMPC)J HOM Early adult 1.53×10-05
increased circulating cholesterol level Ing5em1(IMPC)J HOM Early adult 1.02×10-06

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 Skull Dorso Ventral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Skull Lateral Orientation

5 Images

Electroretinography 3

Fundus file

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Forepaw

5 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Ing5 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 Ing5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction, Diabetes mellitus OMIM:608320
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Increased ... OMIM:615703
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten... OMIM:610947
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Angina pectoris, Hypercholesterolemia, Hypertriglyceride... OMIM:614025
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Aniridia 1
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hypoplasia of the iris, Ectopia pup... OMIM:106210
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Mietens Syndrome
Wide nasal bridge, Cataract, Microcornea, Corneal opacity, Sclerocornea, Short nose ORPHA:2557
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Dermoids Of Cornea
Corneal opacity OMIM:304730
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
3Q29 Microduplication Syndrome
Wide nasal bridge, Cataract, Aniridia, Sclerocornea, Iris coloboma ORPHA:251038
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Galactosialidosis
Corneal opacity ORPHA:351
Stromme Syndrome
Wide nasal bridge, Cataract, Microcornea, Peters anomaly, Stillbirth, Sclerocornea, Iris coloboma OMIM:243605
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Punctate keratitis, Keratoconjunctivitis s... OMIM:617388
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Sclerocornea, Ventr... OMIM:300952
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Galactokinase Deficiency
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level... ORPHA:79237
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Conj... OMIM:278730
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Morquio Syndrome C
Corneal opacity OMIM:252300
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... ORPHA:439232
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... ORPHA:90065
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ... OMIM:158310
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Arrh... OMIM:606069
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Wide nasal bridge OMIM:614230
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Winchester Syndrome
Corneal opacity OMIM:277950
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Myotonic Dystrophy 2
Posterior subcapsular cataract, Insulin insensitivity, Palpitations, Type II diabetes mellitus, R... OMIM:602668
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Hype... ORPHA:412
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Muscle Filaminopathy
Cardiomyopathy, Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right... ORPHA:171445
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Peters anomaly, Histiocytoid cardiomyopathy, Arrhythmia... OMIM:309801
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Elevate... ORPHA:206559
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:614034
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Morgagni-Stewart-Morel Syndrome
Hypertension, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus ORPHA:77296
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Corneal opacity ORPHA:2370
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Bra... OMIM:618815
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Mirage Syndrome
Lymphopenia, Leukopenia, Intrauterine growth retardation, Thrombocytopenia, Anemia, Hypoplastic s... OMIM:617053
Congenital Generalized Lipodystrophy
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hype... ORPHA:528
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Hypercholesterolemia, Re... ORPHA:401923
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Kid Syndrome
Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Punctate keratitis, Keratocon... ORPHA:477
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Corneal opacity ORPHA:317
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, ... ORPHA:2556
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Glucose intolerance, Elevated circulating creatine kinase concentration, Ar... OMIM:610131
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Fish-Eye Disease
Angina pectoris, Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia OMIM:616222
Megalocornea-Intellectual Disability Syndrome
Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Hypercholeste... ORPHA:2479
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Corneal neovascularization, Corneal... ORPHA:404454
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocorne... ORPHA:818
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Cerebral hemorrhage, Ischemic stroke, Asti... OMIM:175780
Short Syndrome
Wide nasal bridge, Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal pupil morph... ORPHA:3163
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Cataract, Gastroi... ORPHA:247598
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Wolf-Hirschhorn Syndrome
Sclerocornea, Wide nasal bridge, Iris coloboma, Megalocornea ORPHA:280
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Megalocorne... ORPHA:137675
Neuhauser Syndrome
Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Iris... OMIM:249310
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Short nose, Developmental cataract, Corneal opacity OMIM:617183
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Pearson Syndrome
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... ORPHA:699
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Meckel Syndrome
Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Scorpion Envenomation
Mydriasis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle bran... ORPHA:466677
Smith-Magenis Syndrome
Wide nasal bridge, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Smith-Magenis Syndrome
Wide nasal bridge, Microcornea, Hypercholesterolemia, Hypertriglyceridemia, Short nose ORPHA:819
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
22Q11.2 Deletion Syndrome
Wide nasal bridge, Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Corneal neovascula... ORPHA:567
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Multilobulated spleen, Hypoplastic spleen, Neonatal death OMIM:601186
Fabry Disease
Cataract, Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart fail... ORPHA:324
Lcat Deficiency
Corneal opacity, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, De... ORPHA:650
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Cataract, First degree atrioventricular block ORPHA:589821
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Alpha-Mannosidosis
Cataract, Type II diabetes mellitus, Corneal opacity ORPHA:61
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia, Hypoglycemia OMIM:620454
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:616479
Yunis-Varon Syndrome
Cataract, Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Renovascular hypertensio... ORPHA:3472
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Gaisböck Syndrome
Elevated diastolic blood pressure, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercholesterole... ORPHA:90041
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Elevated circulating creatine kinase concentration ORPHA:254361
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Cataract, Short nose, Corneal opacity ORPHA:496790
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Corneal opacity OMIM:618961
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Xanthelasma, Angina pectoris, Decreased HDL cholesterol... ORPHA:425
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia,... ORPHA:79240
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Cystinosis
Type I diabetes mellitus, Portal hypertension, Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Portal hypertension, Hypertriglyceridemia, Hypercholeste... OMIM:278000
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Wide nasal bridge, Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Mitral regurgitation, Right bundle branch block, Astigmatism OMIM:619576
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypercholestero... ORPHA:264580
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Elevated circulatin... ORPHA:93672
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Cataract, Type I diabetes mellitus, Glucose intolerance, Pulmonary arterial h... OMIM:606721
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Sialidosis Type 2
Corneal opacity ORPHA:87876
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Tangier Disease
Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decreased circulati... OMIM:205400
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon, Hypocalcemia OMIM:188400
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Corneal neovascularization, Neonatal death, Recurrent corneal erosions, Opacification ... OMIM:308205
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Oculomaxillofacial Dysostosis
Wide nasal bridge, Corneal opacity ORPHA:1794
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Pulmonary insufficiency, Right bundle branch block OMIM:619322
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227990
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Sialidosis Type 1
Wide nasal bridge, Cataract, Corneal opacity ORPHA:812
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv... ORPHA:70591
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Bartsocas-Papas Syndrome
Popliteal pterygium, Short nose, Corneal opacity ORPHA:1234
Congenital Sialidosis Type 2
Cataract, Abnormal EKG, Telangiectasia, Developmental cataract, Corneal opacity ORPHA:93400
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Corneal opacity OMIM:607016
Alagille Syndrome 1
Cataract, Microcornea, Band keratopathy, Axenfeld anomaly, Posterior embryotoxon, Hypercholestero... OMIM:118450
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Familial Dysautonomia
Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Orthostatic hypotension, Corneal o... ORPHA:1764
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... ORPHA:91495
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hypoglycemia, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemi... ORPHA:79259
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227982
Noonan Syndrome With Multiple Lentigines
Wide nasal bridge, Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Myocardial infar... ORPHA:500
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Steinert Myotonic Dystrophy
Insulin resistance, Posterior subcapsular cataract, Dilated cardiomyopathy, Left ventricular syst... ORPHA:273
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes mellitus, Hypercholes... OMIM:176270
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypercholesterolemia, Hype... ORPHA:363618
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Right bundle branch block, Short nose OMIM:618590
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Hypertension, Increased circulating cortisol level OMIM:615954
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Corneal opacity ORPHA:309288
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Elevated circulating creatine kinase concentration, Corneal opacity, Abnormal left v... OMIM:301056
Lowry-Maclean Syndrome
Short nose, Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Zellweger Syndrome
Wide nasal bridge, Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Yunis-Varon Syndrome
Cataract, Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Heart murmur OMIM:216340
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Hyperlipidemia, Cerebral is... ORPHA:1830
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Abnormal EKG, Right bundle branch block, Elevated cir... ORPHA:268
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Astigmatism OMIM:619471
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Hype... ORPHA:186
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea... OMIM:256800
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Walker-Warburg Syndrome
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Corneal opacity, Iris ... ORPHA:899
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity OMIM:607015
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Corneal opacity ORPHA:423461
Lysosomal Acid Lipase Deficiency
Hypotension, Xanthelasma, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hy... ORPHA:275761
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Crimean-Congo Hemorrhagic Fever
Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperitoneum, Bradyc... ORPHA:99827
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Developmental cataract, Corneal opacity OMIM:616603
Wagro Syndrome
Cataract, Aniridia, Hypertension, Corneal opacity OMIM:612469
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... ORPHA:228308
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Hurler Syndrome
Aortic regurgitation, Wide nasal bridge, Cardiomyopathy, Mitral regurgitation, Corneal opacity, O... OMIM:607014
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Hyperaldosteronism, Abnormal pupil morphology, Hyponatremia, Hypokalemia, ... ORPHA:534
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Sanjad-Sakati Syndrome
Astigmatism, Hyperphosphatemia, Hypocalcemia, Corneal opacity ORPHA:2323
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity OMIM:253010
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Short nose ORPHA:2719
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Simpson-Golabi-Behmel Syndrome
Wide nasal bridge, Cardiomyopathy, Hypoglycemia, Bundle branch block, Prolonged QT interval, Shor... ORPHA:373
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Immunodeficiency 47
Tricuspid regurgitation, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Abnormal liver lobulation ORPHA:99776
Gm1 Gangliosidosis
Congestive heart failure, Cardiomyopathy, Corneal opacity ORPHA:354
Cutis Laxa, Autosomal Recessive, Type Iid
Wide nasal bridge, Cataract, Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle ... OMIM:617403
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Corneal scarring, Elevated circulating creatine kinase... OMIM:309000
Hurler Syndrome
Wide nasal bridge, Cardiomyopathy, Angina pectoris, Corneal opacity, Hypertension ORPHA:93473
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... ORPHA:391665
Incontinentia Pigmenti
Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension... ORPHA:464
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Pulmonic stenosis, Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... OMIM:617506
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s... OMIM:151100
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Fucosidosis
Corneal opacity ORPHA:349
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... OMIM:236670
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral stenosis, Mitral regurgitation... OMIM:253200
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Short nose, Corneal opacity OMIM:601812
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Congestive heart failure, Corneal opacity ORPHA:579
Focal Dermal Hypoplasia
Ectopia lentis, Hypoplasia of the iris, Telangiectasia of the skin, Corneal opacity, Iris coloboma ORPHA:2092
Fryns Syndrome
Wide nasal bridge, Corneal opacity ORPHA:2059
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Corneal opacity OMIM:253220
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucopolysaccharidosis Type 3
Cataract, Atrioventricular block, Reduced left ventricular ejection fraction, Corneal opacity, Op... ORPHA:581
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Corneal opacity ORPHA:364577
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Posterior subcapsular cataract, Megalocornea, Short nose, Corneal opacity,... ORPHA:536471
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Mitral regurgitation, Astigmatism, Corneal opacity ORPHA:309282
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Feingold Syndrome 1
Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Increased circulating ferritin concen... OMIM:619534
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Intrauterine growth retardation, Sple... OMIM:249000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity ORPHA:464311
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Williams Syndrome
Megalocornea, Type II diabetes mellitus, Mitral regurgitation, Posterior embryotoxon, Flat cornea... ORPHA:904
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia OMIM:306955
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Insulin resistance, Left ventricular systolic dysfun... ORPHA:740
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Hyperalaninemia, Corneal ulceration, Elevated circulating alpha-fetoprotein conc... OMIM:615273
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity ORPHA:464306
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Pulmonary arterial hypertension, Iris coloboma, Corneal opacity ORPHA:2396
Mucopolysaccharidosis Type 2, Severe Form
Wide nasal bridge, Cardiomyopathy, Arrhythmia, Corneal opacity, Heart murmur, Hypertension ORPHA:217085
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mucopolysaccharidosis Type 2, Attenuated Form
Wide nasal bridge, Cardiomyopathy, Arrhythmia, Corneal opacity, Heart murmur, Hypertension ORPHA:217093
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Mucopolysaccharidosis Type 2
Wide nasal bridge, Cardiomyopathy, Arrhythmia, Corneal opacity, Hypertension ORPHA:580
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Hyperbiliru... OMIM:277900
Moebius Syndrome
Corneal opacity ORPHA:570
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Short nose, Corneal opacity, Iris coloboma, Anterior chamb... ORPHA:709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity ORPHA:495875
Limb Body Wall Complex
Lens subluxation, Wide nasal bridge, Iris coloboma, Corneal opacity ORPHA:2369
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Developmental cataract, Cor... ORPHA:90348
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Gaucher Disease
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Pulmonary ... ORPHA:355
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Larsen Syndrome
Corneal opacity OMIM:150250
Chime Syndrome
Corneal opacity ORPHA:3474
Neurofibromatosis Type 1
Cataract, Heterochromia iridis, Lisch nodules, Corneal opacity, Hypertension ORPHA:636
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Wiedemann-Rautenstrauch Syndrome
Cataract, Type II diabetes mellitus, Hypertriglyceridemia, Corneal opacity, Pulmonic stenosis ORPHA:3455
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Corneal opacity ORPHA:2072
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Corneal opacity ORPHA:666
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Fraser Syndrome 1
Wide nasal bridge, Corneal opacity OMIM:219000
Roberts-Sc Phocomelia Syndrome
Wide nasal bridge, Cataract, Corneal opacity, Stillbirth, Opacification of the corneal stroma OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia ORPHA:261552

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 Ing5

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 Ing5.

No publications found that use IMPC mice or data for Ing5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ing5em1(IMPC)J Exon Deletion Mice
Ing5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ing5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ing5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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