Gene Summary

Name:
elongin A
Synonyms:
Tceb3

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 Eloaem1(IMPC)Mbp HET Early adult 0.00
anophthalmia Eloaem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Eloaem1(IMPC)Mbp HOM E9.5 0.00
small liver Eloaem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Eloaem1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitreous body morphology Eloaem1(IMPC)Mbp HET   Early adult 9.96×10-05
abnormal embryo turning Eloaem1(IMPC)Mbp HOM E9.5 0.00
enlarged heart Eloaem1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Eloaem1(IMPC)Mbp HET Early adult 0.00
decreased body length Eloaem1(IMPC)Mbp HET Early adult 2.80×10-06
abnormal heart morphology Eloaem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Eloaem1(IMPC)Mbp HOM E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Gross Morphology Embryo E9.5

Images

10 Images

MicroCT E9.5

Embryo reconstruction

4 Images

Human diseases caused by Eloa 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 Eloa by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Microphthalmia, Anophthalmia, Ventricular septal defect OMIM:615524
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated 8
Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, Microphthalmia, Optic nerv... OMIM:615113
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Abnormality of retinal pigmentation, Car... ORPHA:858
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Anophthalmia, Microphthalmia OMIM:613885
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Pallor, Hep... OMIM:613561
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Hydrocephalus, Hepatomegaly, Pericarditis ORPHA:163596
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Patent foramen ovale, Perica... ORPHA:60041
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Ventricular septal defect, Atrial se... ORPHA:3378
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Atrial septal defect, Ventricular septal defect ORPHA:49827
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Anencephaly 2
Anophthalmia OMIM:619452
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Growth delay OMIM:615631
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom... ORPHA:848
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... OMIM:212140
Matthew-Wood Syndrome
Annular pancreas, Anophthalmia, Abnormal spleen morphology, Microphthalmia, Aplasia/Hypoplasia of... ORPHA:2470
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, An... OMIM:601186
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating as... OMIM:620609
Optic Atrophy 1
Pallor OMIM:165500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Pallor, Splenomegaly, Cholecystitis, Hepatomegal... OMIM:266200
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Breath-Holding Spells
Pallor OMIM:607578
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Ventricular septal defect ORPHA:77298
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mulibrey Nanism
Pigmentary retinopathy, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia OMIM:618652
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Rheumatic Fever
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... ORPHA:3099
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Walker-Warburg Syndrome
Optic atrophy, Anophthalmia, Retinal detachment, Microphthalmia, Retinal dysplasia ORPHA:899
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, Cardiomega... OMIM:235200
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... OMIM:609053
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Petechiae, Hepatomegal... ORPHA:824
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Splenomegaly, Hepato... ORPHA:507
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Pallor ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, A... ORPHA:90321
Trisomy 1Q
Anophthalmia, Ventricular septal defect ORPHA:261344
American Trypanosomiasis
Cardiomyopathy, Pallor, Splenomegaly, Myocarditis, Hepatomegaly ORPHA:3386
Meckel Syndrome
Accessory spleen, Optic atrophy, Situs inversus totalis, Aplasia/Hypoplasia of the iris, Anophtha... ORPHA:564
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Splenomegaly, Elevated hepatic iron concentration, Hepatomegaly, Growth delay OMIM:615234
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hypersplenism, Hepatosplenomegaly, Pallor, ... ORPHA:231226
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaund... ORPHA:822
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Hepatosplenomegaly, Pallor OMIM:611590
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Pericardial effusion OMIM:614702
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hypersplenism, Hepatosplenomegaly, Pallor, ... ORPHA:231214
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia ORPHA:231736
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:3226
Dravet Syndrome
Pallor ORPHA:33069
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Truncus arteriosus, Atrial septal defect, Microphthalmia... ORPHA:2538
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Pallor, Splenomegaly ORPHA:75564
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice, Hepatom... ORPHA:57777
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Holoprosencephaly
Optic atrophy, Tetralogy of Fallot, Abnormality of the spleen, Abnormal pulmonary valve morpholog... ORPHA:2162
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia OMIM:206900
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhos... ORPHA:465508
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Anophthalmia, Abnormality of retinal pigmentation, Retinal detachment, Atrial sept... ORPHA:2526
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fibular Hemimelia
Abnormal heart morphology, Anophthalmia ORPHA:93323
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Aniridia, Anophthalmia ORPHA:1101
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Retinal degeneration OMIM:266500
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anophthalmia, Mitral valve prolapse, Abnorma... ORPHA:2556
Microphthalmia, Syndromic 2
Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Double out... OMIM:300166
Joubert Syndrome 21
Optic atrophy, Splenomegaly, Anophthalmia, Megalopapilla OMIM:615636
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Retinal degeneration ORPHA:391428
Microphthalmia/Coloboma 12
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Microphthalmia OMIM:120200
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Elevated hep... ORPHA:300298
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:98870
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Pallor, Lipid ac... ORPHA:20
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Histiocytoid Cardiomyopathy
Pallor, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Hepatomegaly ORPHA:137675
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Splenomegaly ORPHA:90033
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis ORPHA:348
Sepsis In Premature Infants
Decreased liver function, Pallor, Splenomegaly, Petechiae, Hepatomegaly, Jaundice, Purpura ORPHA:90051
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula... OMIM:608836
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:331206
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Pallor, Hydrocephalus, Hepatomegaly, Growth delay ORPHA:667
Fanconi Anemia, Complementation Group D2
Annular pancreas, Abnormal heart morphology, Anemic pallor, Hydrocephalus, Short stature, Patent ... OMIM:227646
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:246450
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor, Perimembranous ventricular septal defect OMIM:606812
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Pallor, Ventricular septal defect, Atrial septal defect, Short s... OMIM:105650
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defe... ORPHA:79330
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Retinitis Pigmentosa 75
Pallor OMIM:617023
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Pallor, Hydrocephalus OMIM:277400
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Waldenström Macroglobulinemia
Hepatomegaly, Purpura, Splenomegaly, Pallor ORPHA:33226
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor ORPHA:134
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Tay-Sachs Disease
Pallor OMIM:272800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:308552
Charge Syndrome
Optic atrophy, Tetralogy of Fallot, Anophthalmia, Abnormal aortic valve morphology, Abnormal card... ORPHA:138
Cone-Rod Dystrophy 8
Pallor OMIM:605549
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Proboscis Lateralis
Optic disc coloboma, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia ORPHA:141099
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... ORPHA:3260
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Degcags Syndrome
Cholestasis, Intrauterine growth retardation, Hepatosplenomegaly, Pallor, Patent foramen ovale, V... OMIM:619488
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Anemic pallor, Ventricular septal defect OMIM:227645
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:608013
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Pallor, Splenomegaly ORPHA:98849
Charge Syndrome
Secundum atrial septal defect, Retinal coloboma, Tetralogy of Fallot, Unilateral microphthalmos, ... OMIM:214800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fraser Syndrome 1
Abnormal heart morphology, Anophthalmia, Bilateral microphthalmos OMIM:219000
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... OMIM:614643
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti... OMIM:245600
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Abnormal heart morphology OMIM:600901
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Esophageal Atresia
Tetralogy of Fallot, Growth delay, Pallor, Ventricular septal defect ORPHA:1199
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy ORPHA:2131
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Adenohypophysitis
Pallor ORPHA:95512
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormal heart morphology OMIM:227650
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Micro... OMIM:620185
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Abn... ORPHA:14
Panhypophysitis
Pallor ORPHA:95513
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Splenomegaly, Abnormal aortic valve morphology, Abnormal m... ORPHA:581
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Diamond-Blackfan Anemia
Abnormal heart morphology, Pallor, Ventricular septal defect, Atrial septal defect, Short stature... ORPHA:124
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Aregenerative Anemia
Pallor ORPHA:101096
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea... OMIM:618278
Von Hippel-Lindau Disease
Cardiomyopathy, Pallor, Pancreatic islet cell adenoma, Myocarditis, Pancreatic cysts, Neoplasm of... ORPHA:892
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Microphthalmia OMIM:221900
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Pituitary Apoplexy
Pallor ORPHA:95613
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Retin... OMIM:609049
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Focal Dermal Hypoplasia
Optic atrophy, Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:620376
Microphthalmia With Limb Anomalies
Optic atrophy, True anophthalmia, Microphthalmia ORPHA:1106
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Cardiomegaly, Retinal atrophy, Abnormal cardiac ... ORPHA:97297
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly, Pancreatitis, Re... OMIM:620371
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pallor ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty, Pallor ORPHA:91347
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Enlarged kidney OMIM:130650
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Neuroblastoma
Anemic pallor ORPHA:635
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... OMIM:300855
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Branchiooculofacial Syndrome
Retinal coloboma, Anophthalmia, Microphthalmia OMIM:113620
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:365
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine pancreatic ins... ORPHA:116
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Anophthalmia, Optic disc coloboma, Microphthalmia OMIM:309800
Craniofacial Microsomia 1
Tetralogy of Fallot, Microphthalmia, Anophthalmia, Ventricular septal defect OMIM:164210
Yunis-Varon Syndrome
Cardiomyopathy, Bilateral microphthalmos, Tetralogy of Fallot, Ventricular septal defect, Cardiom... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Elevated circulating hepatic transaminase concentration OMIM:256040
Neuroocular Syndrome 1
Patent foramen ovale, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microphth... OMIM:619539
Williams Syndrome
Cholelithiasis, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Aplasia/Hypoplasia of the iris,... ORPHA:904
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Single ventricle OMIM:157170
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Retinal hemorrhage, Cardiomegaly, Pancreatic calcification, Hepatic calc... ORPHA:51608
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Retinal detachment, Aplasia/Hypoplasia of the lens, Microp... ORPHA:649
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Goodpasture Syndrome
Pallor OMIM:233450
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250

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 Eloa

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 Eloa.

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

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MGI Allele Allele Type Produced
Eloatm210428(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eloaem1(IMPC)Mbp Exon Deletion Mice

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