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Gene: Elp1 MGI:1914544

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Gene Summary

Name:
elongator complex protein 1
Synonyms:
IKAP,  C78473,  Ikbkap,  3110040G09Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Elp1tm1a(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote Ambiguous
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Phenotype associated images not available

Human diseases caused by Elp1 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.

The table below shows human diseases associated to Elp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension, Growth delay OMIM:223900
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension, Growth delay ORPHA:1764
Medulloblastoma
OMIM:155255

The table below shows human diseases predicted to be associated to Elp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Placental Insufficiency
Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical... ORPHA:439167
Nephrosialidosis
Ascites, Bone-marrow foam cells, Pericardial effusion OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Abnormality ... ORPHA:1041
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Meckel Syndrome, Type 8
Pericardial effusion, Short neck, Occipital encephalocele, Encephalocele OMIM:613885
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Pallor, Hydrocephalus, Polyhydramnios, Hydrops fetalis... ORPHA:163596
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Strok... ORPHA:49827
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Clinodactyly, Small placenta, Intrauterine growth retardation, Low pos... ORPHA:73272
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... OMIM:261740
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Oligohydramnios,... ORPHA:397590
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Aortic aneurysm, Atrial septal defe... OMIM:620070
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Small placenta, Ulnar deviation of the hand or of fingers of the hand, I... OMIM:208150
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... OMIM:615583
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Umbilical hernia, Lymphedema, Intestinal lymphangiectasia, Mild postna... OMIM:235510
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Alkuraya-Kucinskas Syndrome
Webbed neck, Pleural effusion, Hydrocephalus, Pericardial effusion, Cystic hygroma, Edema OMIM:617822
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Ascites, Dry skin, Intrauterine growth retardation, Portal hyperten... OMIM:619487
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Petechiae, Pericarditis ORPHA:231111
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, Short neck, Patent ductus arteri... OMIM:256520
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Sma... ORPHA:36412
Congenital Disorder Of Glycosylation, Type Il
Ascites, Short neck, Atrial septal defect, Pericardial effusion, Hydrops fetalis OMIM:608776
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Pallor, Abnormal mitral valve morphology, A... ORPHA:3099
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Primary Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves... ORPHA:90362
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Agenesi... OMIM:609053
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Redundant skin, Mi... ORPHA:536532
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis, Edema ORPHA:3386
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Camptodactyly, Finger syndactyly, Branchial cyst, Tapered finger ORPHA:435938
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormality of the pulmonary artery, Abnormal mitral valve morpho... ORPHA:1131
Kaposiform Lymphangiomatosis
Epistaxis, Pleural effusion, Abnormal lymphatic vessel morphology, Ecchymosis, Abnormality of the... ORPHA:464329
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Q Fever
Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Pleural effusion, Purp... ORPHA:781
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion ORPHA:79126
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial... ORPHA:50815
Aymé-Gripp Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Pericardial effusion, Patent ductus a... ORPHA:1272
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Ascites, Pleural effusion, Coloboma, Polyhydramnios, Pericardial effusion OMIM:618183
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Restrictive Dermopathy
Webbed neck, Natal tooth, Camptodactyly of finger, Small placenta, Intrauterine growth retardatio... ORPHA:1662
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Overlapping toe, Intrauterine growth retardation, Large placenta, Polyhydramnio... ORPHA:254528
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Intrauterine growth retardation, Large placenta... ORPHA:499009
Optic Atrophy 1
Pallor OMIM:165500
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Alg9-Cdg
Rhizomelia, Thickened nuchal skin fold, Tricuspid regurgitation, Abnormal heart morphology, Oligo... ORPHA:79328
Hemoglobin D Disease
Pallor ORPHA:90039
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Pericardial effusion, Edema, Peri... OMIM:212065
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Pericardial effusion, Ventricular septal ... OMIM:139210
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Clinodactyly, Short thumb, Premature birth, Intrauterine g... ORPHA:1708
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Breath-Holding Spells
Pallor OMIM:607578
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascit... ORPHA:99827
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Del... ORPHA:77261
Greenberg Dysplasia
Postaxial foot polydactyly, Hepatosplenomegaly, Large placenta, Neonatal death, Diaphyseal undert... OMIM:215140
Poems Syndrome
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Hy... ORPHA:538
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... ORPHA:2162
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... OMIM:615846
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Hennekam Syndrome
Chylothorax, Arteriovenous malformation, Delayed eruption of teeth, Lymphedema, Ascites, Mild pos... ORPHA:2136
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Occipital encephalocele, Clinodactyly, Large placenta, B... OMIM:249000
Bor Syndrome
Branchial cyst ORPHA:107
Myopathic Ehlers-Danlos Syndrome
Pallor, Congenital muscular torticollis ORPHA:536516
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Dravet Syndrome
Limited neck range of motion, Pallor ORPHA:33069
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San... ORPHA:261330
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Pallor, Delayed pubert... ORPHA:91347
Kagami-Ogata Syndrome
Webbed neck, Large placenta, Short neck, Polyhydramnios, Coxa valga, Premature birth ORPHA:254519
Diamond-Blackfan Anemia 1
Webbed neck, Congestive heart failure, Intrauterine growth retardation, Pallor, Ventricular septa... OMIM:105650
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... ORPHA:33226
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Lymphedema ORPHA:3226
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis... ORPHA:667
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Optic disc coloboma, Tricuspid regurgitation, Ventricular septal ... ORPHA:261337
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del... ORPHA:231226
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Pulmonary venous occlusion, H... ORPHA:2260
Retinitis Pigmentosa 51
Pallor OMIM:613464
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Large placenta, Avascular necrosis of the capital femoral epiphy... OMIM:222470
Primary Myelofibrosis
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Aniridia, Palpitati... ORPHA:29072
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor ORPHA:822
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Agenesis of corpus callosum, Anemic pallor, Hydrocephalus, Short statu... OMIM:227646
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Edema, Pallor, Cardiac arrest, Dehydration ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachycardia, Ca... OMIM:277400
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del... ORPHA:231214
Von Hippel-Lindau Disease
Macular edema, Cardiomyopathy, Palpitations, Pallor, Stroke, Arrhythmia, Myocarditis, Abnormal le... ORPHA:892
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Branchial anomaly, Prominent fingertip pads, Short palm ORPHA:466950
Sepsis In Premature Infants
Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura, Edema ORPHA:90051
Fumarase Deficiency
Ascites, Pallor, Agenesis of corpus callosum, Perimembranous ventricular septal defect, Polyhydra... OMIM:606812
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische... ORPHA:3260
Chédiak-Higashi Syndrome
Pericardial effusion, Epistaxis, Pleural effusion, Edema ORPHA:167
Esophageal Atresia
Tetralogy of Fallot, Pallor, Ventricular septal defect, Coarctation of aorta, Coloboma, Polyhydra... ORPHA:1199
Restrictive Dermopathy 1
Premature rupture of membranes, Natal tooth, Spontaneous chorioamniotic separation, Intrauterine ... OMIM:275210
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Diamond-Blackfan Anemia
Webbed neck, Abnormal heart morphology, Pallor, Radial artery aplasia, Ventricular septal defect,... ORPHA:124
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Dehydration ORPHA:2131
Beta-Ketothiolase Deficiency
Hypotension, Edema, Pallor, Hypertension, Dehydration ORPHA:134
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Thumb contracture, Hepatosplenomegaly, Large placenta, Short neck, Small proximal ti... ORPHA:96334
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Branchial cyst, Retinal col... ORPHA:508488
Degcags Syndrome
Intrauterine growth retardation, Pallor, Patent foramen ovale, Agenesis of corpus callosum, Ventr... OMIM:619488
Treacher-Collins Syndrome
Hypoplasia of the thymus, Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor, Dehydration OMIM:246450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations, Pedal edema ORPHA:86839
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor, Melena ORPHA:98870
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Cold Agglutinin Disease
Pallor ORPHA:56425
Irida Syndrome
Pallor ORPHA:209981
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Abnormal heart morphology OMIM:600901
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Pallor ORPHA:98849
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Generalized edema, Pallor, Myocarditis, Pleural empyema, Hypertension, Edema ORPHA:544482
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Anemic pallor, Ventricular septal defect OMIM:227645
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormal heart morphology OMIM:227650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Clinodactyly, Broad hallux, Intrauterine growth retardation, Aplasia... OMIM:620186
Retinitis Pigmentosa 75
Pallor OMIM:617023
Myelofibrosis
Purpura, Pallor OMIM:254450
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Incontinentia Pigmenti
Erythema, Delayed eruption of teeth, Pallor, Retinal hemorrhage, Short stature OMIM:308300
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polycythemia, Umbilical hernia, Large placenta, Splenomegaly, Polyhydra... ORPHA:116
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Growth delay, Edema ORPHA:329971
Childhood Absence Epilepsy
Pallor ORPHA:64280
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Letterer-Siwe Disease
Pallor OMIM:246400
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Pallor, Dehydration OMIM:557000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Coloboma, Pallor, Hydrocephalus OMIM:253280
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin... OMIM:613406
Aregenerative Anemia
Pallor ORPHA:101096
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Right aortic arch, Agenesis of c... OMIM:164210
Elliptocytosis 1
Pallor OMIM:611804
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Intrauterine growth retardation, Branchial anomaly, Low p... OMIM:113620
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Neuroblastoma
Anemic pallor, Hypertension ORPHA:635
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Angina pectoris, Pericardial effusion, Intracr... ORPHA:79318
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension, Growth delay OMIM:223900
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension, Growth delay ORPHA:1764
Medulloblastoma
OMIM:155255

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 Elp1

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 Elp1.

There are 14 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia. Nature communications (January 2023) Elp1tm1c(KOMP)Wtsi PMC9839693
Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models. Nature communications (November 2022) Elp1tm1c(KOMP)Wtsi PMC9671909
Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia. eLife (June 2022) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC9273214
Elp1 is required for development of visceral sensory peripheral and central circuitry. Disease models & mechanisms (May 2022) Elp1tm1c(KOMP)Wtsi PMC9187870
Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway. Biology open (September 2021) Elp1tm1c(KOMP)Wtsi PMC8496692
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Elp1tm1c(KOMP)Wtsi 32290105
Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility. Scientific reports (December 2019) Elp1tm1c(KOMP)Wtsi PMC6906334
Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia. Disease models & mechanisms (July 2018) Elp1tm1c(KOMP)Wtsi PMC6078410
Elongator and codon bias regulate protein levels in mammalian peripheral neurons. Nature communications (March 2018) Elp1tm1c(KOMP)Wtsi PMC5832791
BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia. Proceedings of the National Academy of Sciences of the United States of America (April 2017) Elp1tm1c(KOMP)Wtsi PMC5441694
The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system. Disease models & mechanisms (February 2017) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC5451171
Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia. eNeuro (September 2016) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC5037323
Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. Proceedings of the National Academy of Sciences of the United States of America (October 2013) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC3831979
Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression. PLoS genetics (May 2013) Elp1tm1a(KOMP)Wtsi PMC3662645

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MGI Allele Allele Type Produced
Elp1tm36168(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elp1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elp1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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