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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
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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
Growth delay, Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Familial Dysautonomia
Growth delay, Hypertension, Orthostatic hypotension, Tachycardia 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
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Placental Insufficiency
Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen... ORPHA:439167
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... ORPHA:1041
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Short neck OMIM:613885
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Pallor, O... ORPHA:163596
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Low posterior hairline, Severe intrauterine growth retardation, Small ... ORPHA:73272
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... ORPHA:49827
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... ORPHA:2414
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodactyly of the 5th ... ORPHA:397590
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Congenital Disorder Of Glycosylation, Type Il
Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, Ascites OMIM:608776
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... OMIM:620070
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Ulnar deviation of the hand, Premature birth, Nonimmune hydrops fetalis... OMIM:208150
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... OMIM:615583
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus, Webbed neck, Pleural effusion, Cystic hygroma OMIM:617822
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Dry skin, Hypertension, Lateral v... OMIM:619487
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae ORPHA:231111
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger OMIM:609166
Neu-Laxova Syndrome 1
Polyhydramnios, Fetal akinesia sequence, Micromelia, Short neck, Calcaneovalgus deformity, Neonat... OMIM:256520
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel... ORPHA:36412
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... ORPHA:3099
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Short neck, Agenesis of corpus callosum, Colpocephaly, ... OMIM:609053
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Congenital Enterovirus Infection
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, G... ORPHA:90362
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Optic Atrophy 1
Pallor OMIM:165500
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Classical-Like Ehlers-Danlos Syndrome Type 2
Redundant skin, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral v... ORPHA:536532
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholog... ORPHA:1131
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Camptodactyly, Tapered finger ORPHA:435938
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Delayed puberty... ORPHA:77259
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vessel morphology, Subco... ORPHA:464329
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul... ORPHA:781
Aymé-Gripp Syndrome
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... ORPHA:1272
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:50815
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites ORPHA:93552
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Restrictive Dermopathy
Decreased fetal movement, Natal tooth, Premature birth, Premature delivery because of cervical in... ORPHA:1662
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Redundant neck skin, Overlapping toe, Polyhydramnios, Large placenta, Camptodactyly, Um... ORPHA:254528
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Pleural effusion, Ascites OMIM:618183
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Alg9-Cdg
Thickened nuchal skin fold, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhiz... ORPHA:79328
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemoglobin D Disease
Pallor ORPHA:90039
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Cardio... OMIM:212065
Mosaic Trisomy 16
Syndactyly, Premature birth, Large placenta, Patent ductus arteriosus, Short thumb, Single umbili... ORPHA:1708
Myhre Syndrome
Ventricular septal defect, Short stature, Short neck, Pericardial effusion, Patent ductus arterio... OMIM:139210
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Breath-Holding Spells
Pallor OMIM:607578
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... ORPHA:99827
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Greenberg Dysplasia
Polyhydramnios, Micromelia, Hydrops fetalis, Hypoplasia of the calcaneus, Neonatal death, Short p... OMIM:215140
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Asplenia, Accessory spleen, Syndactyly, Patent ductus arteri... OMIM:249000
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, P... ORPHA:538
Hennekam Syndrome
Delayed eruption of teeth, Mild postnatal growth retardation, Lymphedema, Pericardial effusion, P... ORPHA:2136
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine gr... OMIM:615846
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Evans Syndrome
Pallor, Syncope, Epistaxis, Petechiae ORPHA:1959
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Pallor ORPHA:536516
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Bor Syndrome
Branchial cyst ORPHA:107
Gitelman Syndrome
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Delayed puberty, Low-to-normal b... ORPHA:358
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Short neck, Congestive heart failur... OMIM:105650
Kagami-Ogata Syndrome
Premature birth, Polyhydramnios, Short neck, Coxa valga, Large placenta, Webbed neck ORPHA:254519
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Bowing of the long bones, Toe syndactyly, Premature birth, Arachnodactyly, San... ORPHA:261330
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... ORPHA:33226
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Lymphedema ORPHA:3226
Dravet Syndrome
Limited neck range of motion, Pallor ORPHA:33069
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Hydroc... ORPHA:667
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... ORPHA:51608
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231226
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, D... ORPHA:2260
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Patent du... ORPHA:261337
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Polyhydramnios, Avascular necrosis of the capital femoral epiphys... OMIM:222470
Retinitis Pigmentosa 51
Pallor OMIM:613464
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology,... OMIM:227646
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Primary Myelofibrosis
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension ORPHA:20
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231214
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Epistaxis, Edema ORPHA:167
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Sepsis In Premature Infants
Tachycardia, Edema, Pallor, Bradycardia, Hypotension, Petechiae, Purpura ORPHA:90051
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm ORPHA:466950
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Natal tooth, Premature birth, Ro... OMIM:275210
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Coloboma, Pallor, ... ORPHA:1199
Fumarase Deficiency
Polyhydramnios, Perimembranous ventricular septal defect, Pallor, Ascites, Agenesis of corpus cal... OMIM:606812
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Short... ORPHA:124
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Beta-Ketothiolase Deficiency
Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Polyhydramnios, Short neck, Tibial bowing, Short tibia, Small proximal tibia... ORPHA:96334
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... ORPHA:508488
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Degcags Syndrome
Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Low posterior h... OMIM:619488
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Hypoplasia of the thymus ORPHA:861
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema ORPHA:86839
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
Congenital Dyserythropoietic Anemia Type Iii
Melena, Short stature, Pallor ORPHA:98870
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Irida Syndrome
Pallor ORPHA:209981
Cold Agglutinin Disease
Pallor ORPHA:56425
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Abnormal heart morphology OMIM:600901
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Pallor, Hypotension ORPHA:98849
Myelofibrosis
Pallor, Purpura OMIM:254450
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature OMIM:227645
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Abnormal heart morphology OMIM:227650
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Infection-Related Hemolytic Uremic Syndrome
Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Hypertensive crisis, Generalized edema ORPHA:544482
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Aplasia of the thymus, Broad hallux, Polyhydramnios, Echogenic fetal... OMIM:620186
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Retinitis Pigmentosa 75
Pallor OMIM:617023
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Erythema, Retinal hemorrhage, Pallor OMIM:308300
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Splenomegaly, Large placenta, Subchorionic septal cyst, Umbilica... ORPHA:116
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Growth delay, Anemic pallor, Edema ORPHA:329971
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Coloboma, Hydrocephalus, Pallor OMIM:253280
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Aregenerative Anemia
Pallor ORPHA:101096
Elliptocytosis 1
Pallor OMIM:611804
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... OMIM:164210
Witteveen-Kolk Syndrome
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Polyhydramnios, Proximal plac... OMIM:613406
Branchiooculofacial Syndrome
Proximal placement of thumb, Short neck, Short thumb, Preaxial hand polydactyly, Low posterior ha... OMIM:113620
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... ORPHA:79318
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Familial Dysautonomia
Growth delay, Hypertension, Orthostatic hypotension, Tachycardia 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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